A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064991



Internal ID18807522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4101015..4175692hg38UCSC Ensembl
Innerchr17:4004309..4078987hg19UCSC Ensembl
Innerchr17:3951058..4025736hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3874678
hg1974679
hg1874679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3086n100
Supporting Variantsnssv3560121
Samples
Known GenesANKFY1, CYB5D2, ZZEF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064991
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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