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dbVar

Database of genomic structural variation

nsv3417335

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:mobile element deletion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:50

Description:Absence of a mobile element insertion that is present in the reference
Publication(s):Audano et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 433 SVs from 31 studies. See in: genome view

Submitted genomic99,918,415-99,918,464

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3417335	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	99,918,415	99,918,464
nsv3417335	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	99,173,413	99,173,462

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14812742	mobile element deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14813370	mobile element deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14813820	mobile element deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14813999	mobile element deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14814623	mobile element deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14814875	mobile element deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14812742	Submitted genomic		NC_000023.11:g.999 18415_99918464del	GRCh38 (hg38)		NC_000023.11	ChrX	99,918,415	99,918,464
nssv14813370	Submitted genomic		NC_000023.11:g.999 18415_99918464del	GRCh38 (hg38)		NC_000023.11	ChrX	99,918,415	99,918,464
nssv14813820	Submitted genomic		NC_000023.11:g.999 18415_99918464del	GRCh38 (hg38)		NC_000023.11	ChrX	99,918,415	99,918,464
nssv14813999	Submitted genomic		NC_000023.11:g.999 18415_99918464del	GRCh38 (hg38)		NC_000023.11	ChrX	99,918,415	99,918,464
nssv14814623	Submitted genomic		NC_000023.11:g.999 18415_99918464del	GRCh38 (hg38)		NC_000023.11	ChrX	99,918,415	99,918,464
nssv14814875	Submitted genomic		NC_000023.11:g.999 18415_99918464del	GRCh38 (hg38)		NC_000023.11	ChrX	99,918,415	99,918,464
nssv14812742	Remapped	Perfect	NC_000023.10:g.991 73413_99173462delN C_000023.10:g.9917 3413_99173462del	GRCh37.p13	First Pass	NC_000023.10	ChrX	99,173,413	99,173,462
nssv14813370	Remapped	Perfect	NC_000023.10:g.991 73413_99173462delN C_000023.10:g.9917 3413_99173462del	GRCh37.p13	First Pass	NC_000023.10	ChrX	99,173,413	99,173,462
nssv14813820	Remapped	Perfect	NC_000023.10:g.991 73413_99173462delN C_000023.10:g.9917 3413_99173462del	GRCh37.p13	First Pass	NC_000023.10	ChrX	99,173,413	99,173,462
nssv14813999	Remapped	Perfect	NC_000023.10:g.991 73413_99173462delN C_000023.10:g.9917 3413_99173462del	GRCh37.p13	First Pass	NC_000023.10	ChrX	99,173,413	99,173,462
nssv14814623	Remapped	Perfect	NC_000023.10:g.991 73413_99173462delN C_000023.10:g.9917 3413_99173462del	GRCh37.p13	First Pass	NC_000023.10	ChrX	99,173,413	99,173,462
nssv14814875	Remapped	Perfect	NC_000023.10:g.991 73413_99173462delN C_000023.10:g.9917 3413_99173462del	GRCh37.p13	First Pass	NC_000023.10	ChrX	99,173,413	99,173,462

Showing 12 of 18

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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