A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023508



Internal ID19112725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72686279..72724474hg38UCSC Ensembl
Innerchr8:73598514..73636709hg19UCSC Ensembl
Innerchr8:73761068..73799263hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3838196
hg1938196
hg1838196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7239n100
Supporting Variantsnssv3689548, nssv3689539, nssv3689542, nssv3689536, nssv3757291, nssv3689541, nssv3689540, nssv3757293, nssv3689534, nssv3689535, nssv3689543, nssv3757288, nssv3689547, nssv3757294, nssv3689544, nssv3689537, nssv3757290, nssv3689545, nssv3757292, nssv3689546, nssv3689538, nssv3757289
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)nsv1023508
Frequency
Sample Size11257
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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