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dbVar

Database of genomic structural variation

nsv6820511

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,661,100

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: 6631 SVs from 118 studies. See in: genome view

Submitted genomic100,411,473-102,072,572

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6820511	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	100,411,473	102,072,572
nsv6820511	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	100,009,096	101,715,852

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18531493	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18531493	Submitted genomic		NC_000007.14:g.100 411473_102072572de l	GRCh38 (hg38)		NC_000007.14	Chr7	100,411,473	102,072,572
nssv18531493	Remapped	Good	NC_000007.13:g.100 009096_101715852de l	GRCh37.p13	First Pass	NC_000007.13	Chr7	100,009,096	101,715,852

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)
nssv18531493	4e-06	1	276214

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