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

dbVar

Database of genomic structural variation

nsv6704246

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:3,720

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: 91 SVs from 29 studies. See in: genome view

Submitted genomic44,598,951-44,602,670

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6704246	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	44,598,951	44,602,670
nsv6704246	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	44,640,443	44,644,162

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18484242	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
nssv18484242	Submitted genomic		NC_000003.12:g.445 98951_44602670del	GRCh38 (hg38)		NC_000003.12	Chr3	44,598,951	44,602,670
nssv18484242	Remapped	Perfect	NC_000003.11:g.446 40443_44644162del	GRCh37.p13	First Pass	NC_000003.11	Chr3	44,640,443	44,644,162

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)
nssv18484242	<0.001	229	275832

You are here: NCBI