A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581762



Internal ID16369171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47569996..47570896hg38UCSC Ensembl
Innerchr2:47797135..47798035hg19UCSC Ensembl
Innerchr2:47650639..47651539hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38901
hg19901
hg18901
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6850n54
Supporting Variantsnssv908120, nssv908119, nssv908118
Samples
Known GenesKCNK12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581762
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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