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dbVar

Database of genomic structural variation

nsv6896495

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:111

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: 190 SVs from 23 studies. See in: genome view

Submitted genomic127,968,014-127,968,124

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6896495	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	127,968,014	127,968,124
nsv6896495	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	129,766,278	129,766,388

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18347809	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
nssv18347809	Submitted genomic		NC_000010.11:g.127 968014_127968124de l	GRCh38 (hg38)		NC_000010.11	Chr10	127,968,014	127,968,124
nssv18347809	Remapped	Perfect	NC_000010.10:g.129 766278_129766388de l	GRCh37.p13	First Pass	NC_000010.10	Chr10	129,766,278	129,766,388

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)
nssv18347809	0.005	1251	230546

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