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

dbVar

Database of genomic structural variation

nsv6683597

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:837,393

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: 2507 SVs from 96 studies. See in: genome view

Submitted genomic77,778,262-78,615,654

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6683597	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	77,778,262	78,615,654
nsv6683597	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	78,005,388	78,842,780

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18665572	duplication	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
nssv18665572	Submitted genomic		NC_000002.12:g.777 78262_78615654dup	GRCh38 (hg38)		NC_000002.12	Chr2	77,778,262	78,615,654
nssv18665572	Remapped	Perfect	NC_000002.11:g.780 05388_78842780dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	78,005,388	78,842,780

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)
nssv18665572	4e-06	1	273574

You are here: NCBI