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dbVar

Database of genomic structural variation

nsv6786130

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:327

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 40 studies. See in: genome view

Submitted genomic19,155,409-19,155,735

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6786130	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	19,155,409	19,155,735
nsv6786130	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	19,155,640	19,155,966

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18527129	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
nssv18527129	Submitted genomic		NC_000006.12:g.191 55409_19155735del	GRCh38 (hg38)		NC_000006.12	Chr6	19,155,409	19,155,735
nssv18527129	Remapped	Perfect	NC_000006.11:g.191 55640_19155966del	GRCh37.p13	First Pass	NC_000006.11	Chr6	19,155,640	19,155,966

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)
nssv18527129	0.384	71499	187072

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