A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055732



Internal ID18798263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:197239..729665hg38UCSC Ensembl
Innerchr17:47030..632905hg19UCSC Ensembl
Innerchr17:47030..579655hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38532427
hg19585876
hg18532626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3071n100
Supporting Variantsnssv3719132
Samples
Known GenesC17orf97, FAM101B, LOC100506388, RPH3AL, VPS53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055732
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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