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dbVar

Database of genomic structural variation

nsv4872387

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,952,651

Publication(s):Abel et al. 2020

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: 3168 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):136,450,318-138,402,970

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4872387	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	136,450,319 (-1, +1)	138,402,969 (-1, +1)
nsv4872387	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	135,532,478 (-1, +1)	137,485,128 (-1, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16412869	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16412869	Remapped	Perfect	NC_000023.11:g.(13 6450318_136450320) _(138402968_138402 970)inv	GRCh38.p12	First Pass	NC_000023.11	ChrX	136,450,319 (-1, +1)	138,402,969 (-1, +1)
nssv16412869	Submitted genomic		NC_000023.10:g.(13 5532477_135532479) _(137485127_137485 129)inv	GRCh37 (hg19)		NC_000023.10	ChrX	135,532,478 (-1, +1)	137,485,128 (-1, +1)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16412869	<0.001	8	16834

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