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

dbVar

Database of genomic structural variation

nsv5443771

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:133

Publication(s):Byrska-Bishop et al. 2022

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: 124 SVs from 19 studies. See in: genome view

Submitted genomic9,837,019-9,837,151

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5443771	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	9,837,019	9,837,151
nsv5443771	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	9,878,703	9,878,835

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16930858	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16930858	Submitted genomic		NC_000003.12:g.983 7019_9837151del	GRCh38 (hg38)		NC_000003.12	Chr3	9,837,019	9,837,151
nssv16930858	Remapped	Perfect	NC_000003.11:g.987 8703_9878835del	GRCh37.p13	First Pass	NC_000003.11	Chr3	9,878,703	9,878,835

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)
nssv16930858	0.005	33	6404

You are here: NCBI