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

dbVar

Database of genomic structural variation

nsv6450291

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,517,861

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: 3485 SVs from 103 studies. See in: genome view

Submitted genomic30,119,133-31,636,993

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6450291	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	30,119,133	31,636,993
nsv6450291	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	30,140,680	31,658,540

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18178121	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18178121	Submitted genomic		NC_000011.10:g.301 19133_31636993dup	GRCh38 (hg38)		NC_000011.10	Chr11	30,119,133	31,636,993
nssv18178121	Remapped	Perfect	NC_000011.9:g.3014 0680_31658540dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	30,140,680	31,658,540

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)
nssv18178121	<0.001	2	39290

You are here: NCBI