A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055385



Internal ID18797916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60295447..60519251hg38UCSC Ensembl
Innerchr17:58372808..58596612hg19UCSC Ensembl
Innerchr17:55727590..55951394hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38223805
hg19223805
hg18223805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3273n100
Supporting Variantsnssv3567719
Samples
Known GenesAPPBP2, C17orf64, USP32
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055385
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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