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dbVar

Database of genomic structural variation

nsv6852156

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:28,872

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: 214 SVs from 43 studies. See in: genome view

Submitted genomic47,750,935-47,779,806

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6852156	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	47,750,935	47,779,806
nsv6852156	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	48,663,497	48,692,367

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18736265	duplication	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
nssv18736265	Submitted genomic		NC_000008.11:g.477 50935_47779806dup	GRCh38 (hg38)		NC_000008.11	Chr8	47,750,935	47,779,806
nssv18736265	Remapped	Good	NC_000008.10:g.486 63497_48692367dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	48,663,497	48,692,367

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)
nssv18736265	1.8e-05	5	275208

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