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dbVar

Database of genomic structural variation

nsv4318272

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:24,897,003

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: 16111 SVs from 22 studies. See in: genome view

Remapped(Score: Good):50,358,651-75,255,653

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4318272	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	50,358,651	75,255,653
nsv4318272	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000008.10	Chr8	51,271,211	76,167,888

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16090414	inversion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16090414	Remapped	Good	NC_000008.11:g.503 58651_75255653inv	GRCh38.p12	First Pass	NC_000008.11	Chr8	50,358,651	75,255,653
nssv16090414	Submitted genomic		NC_000008.10:g.512 71211_76167888inv	GRCh37.p13		NC_000008.10	Chr8	51,271,211	76,167,888

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)
nssv16090414	4.6e-005	1	21694

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