A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025110



Internal ID18767642
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 StatusM
Merged Variants
Supporting Variantsnssv3689525
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)nsv1025110
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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