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dbVar

Database of genomic structural variation

nsv4211430

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:69

Publication(s):gnomAD_Structural_Variants

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: 21 SVs from 7 studies. See in: genome view

Remapped(Score: Perfect):52,186,609-52,186,677

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4211430	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	52,186,609	52,186,677
nsv4211430	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000012.11	Chr12	52,580,393	52,580,461

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15808742	deletion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15808742	Remapped	Perfect	NC_000012.12:g.521 86609_52186677del	GRCh38.p12	First Pass	NC_000012.12	Chr12	52,186,609	52,186,677
nssv15808742	Submitted genomic		NC_000012.11:g.525 80393_52580461del	GRCh37.p13		NC_000012.11	Chr12	52,580,393	52,580,461

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv15808742	4.6e-005	1	21694

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