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dbVar

Database of genomic structural variation

nsv6854207

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:7,500

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: 170 SVs from 49 studies. See in: genome view

Submitted genomic67,633,801-67,641,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6854207	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	67,633,801	67,641,300
nsv6854207	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	68,546,036	68,553,535

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18555929	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
nssv18555929	Submitted genomic		NC_000008.11:g.676 33801_67641300del	GRCh38 (hg38)		NC_000008.11	Chr8	67,633,801	67,641,300
nssv18555929	Remapped	Perfect	NC_000008.10:g.685 46036_68553535del	GRCh37.p13	First Pass	NC_000008.10	Chr8	68,546,036	68,553,535

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)
nssv18555929	0.021	5322	256854

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