A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv925263



Internal ID15872533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165662006..165802076hg38UCSC Ensembl
Innerchr2:166518516..166658586hg19UCSC Ensembl
Innerchr2:166226762..166366832hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38140071
hg19140071
hg18140071
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583583
Supporting Variants
Samples
Known GenesCSRNP3, GALNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv925263
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer