A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033339



Internal ID19122561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72686279..72729534hg38UCSC Ensembl
Innerchr8:73598514..73641769hg19UCSC Ensembl
Innerchr8:73761068..73804323hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3843256
hg1943256
hg1843256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7239n100
Supporting Variantsnssv3689549
Samples
Known GenesKCNB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033339
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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