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dbVar

Database of genomic structural variation

nsv6691919

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:94

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: 140 SVs from 21 studies. See in: genome view

Submitted genomic144,333,057-144,333,150

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6691919	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	144,333,057	144,333,150
nsv6691919	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	145,090,624	145,090,717

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18442576	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
nssv18442576	Submitted genomic		NC_000002.12:g.144 333057_144333150de l	GRCh38 (hg38)		NC_000002.12	Chr2	144,333,057	144,333,150
nssv18442576	Remapped	Perfect	NC_000002.11:g.145 090624_145090717de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	145,090,624	145,090,717

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)
nssv18442576	0.003	645	246096

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