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

dbVar

Database of genomic structural variation

nsv4584242

Organism: Homo sapiens

Study:nstd183 (DECIPHER Consensus CNVs)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:283

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: 85 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):85,539,330-85,539,612

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4584242	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	85,539,330	85,539,612
nsv4584242	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	85,766,453	85,766,735

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16098796	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16098796	Remapped	Perfect	NC_000002.12:g.(?_ 85539330)_(8553961 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	85,539,330	85,539,612
nssv16098796	Submitted genomic		NC_000002.11:g.(?_ 85766453)_(8576673 5_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	85,766,453	85,766,735

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16098796	0.001	1	845

You are here: NCBI