A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065997



Internal ID19155216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36460442..36556187hg38UCSC Ensembl
Innerchr17:34816256..34912028hg19UCSC Ensembl
Innerchr17:31890369..31986141hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3895746
hg1995773
hg1895773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3155n100
Supporting Variantsnssv3562533, nssv3562535, nssv3562536, nssv3562534
Samples
Known GenesGGNBP2, MYO19, PIGW, ZNHIT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065997
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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