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

dbVar

Database of genomic structural variation

nsv6414173

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:763

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: 128 SVs from 38 studies. See in: genome view

Submitted genomic139,398,728-139,399,490

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6414173	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	139,398,728	139,399,490
nsv6414173	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	138,734,417	138,735,179

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18125409	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18125409	Submitted genomic		NC_000005.10:g.139 398728_139399490de l	GRCh38 (hg38)		NC_000005.10	Chr5	139,398,728	139,399,490
nssv18125409	Remapped	Perfect	NC_000005.9:g.1387 34417_138735179del	GRCh37.p13	First Pass	NC_000005.9	Chr5	138,734,417	138,735,179

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)
nssv18125409	0.059	1360	22916

You are here: NCBI