A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998314



Internal ID18811164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47493281..47732029hg38UCSC Ensembl
Innerchr2:47720420..47959168hg19UCSC Ensembl
Innerchr2:47573924..47812672hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38238749
hg19238749
hg18238749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581635, nssv3581636
Samples
Known GenesKCNK12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998314
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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