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dbVar

Database of genomic structural variation

nsv6856812

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:978

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: 149 SVs from 37 studies. See in: genome view

Submitted genomic47,906,392-47,907,369

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6856812	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	47,906,392	47,907,369
nsv6856812	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	48,818,952	48,819,929

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18557104	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
nssv18557104	Submitted genomic		NC_000008.11:g.479 06392_47907369del	GRCh38 (hg38)		NC_000008.11	Chr8	47,906,392	47,907,369
nssv18557104	Remapped	Perfect	NC_000008.10:g.488 18952_48819929del	GRCh37.p13	First Pass	NC_000008.10	Chr8	48,818,952	48,819,929

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)
nssv18557104	0.022	6059	267094

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