Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6977599

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:10,492

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: 138 SVs from 33 studies. See in: genome view

Submitted genomic88,241,985-88,252,476

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6977599	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	88,241,985	88,252,476
nsv6977599	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	88,785,216	88,795,707

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18397139	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
nssv18397139	Submitted genomic		NC_000015.10:g.882 41985_88252476del	GRCh38 (hg38)		NC_000015.10	Chr15	88,241,985	88,252,476
nssv18397139	Remapped	Perfect	NC_000015.9:g.8878 5216_88795707del	GRCh37.p13	First Pass	NC_000015.9	Chr15	88,785,216	88,795,707

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)
nssv18397139	4e-06	1	276254

You are here: NCBI