A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3689525



Internal ID18987806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72091240..72818631hg38UCSC Ensembl
Innerchr8:73003475..73730866hg19UCSC Ensembl
Innerchr8:73166029..73893420hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38727392
hg19727392
hg18727392
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025110
Supporting Variants
Samples
Known GenesKCNB2, LOC392232
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3689525
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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