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dbVar

Database of genomic structural variation

nsv6641143

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:187,689

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: 2027 SVs from 103 studies. See in: genome view

Submitted genomic12,671,714-12,859,402

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6641143	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	12,671,714	12,859,402
nsv6641143	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	12,731,725	12,919,257

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18350625	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
nssv18350625	Submitted genomic		NC_000001.11:g.126 71714_12859402del	GRCh38 (hg38)		NC_000001.11	Chr1	12,671,714	12,859,402
nssv18350625	Remapped	Good	NC_000001.10:g.127 31725_12919257del	GRCh37.p13	First Pass	NC_000001.10	Chr1	12,731,725	12,919,257

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)
nssv18350625	1.9e-05	3	256838

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