A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575799



Internal ID16016522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58311566..58339926hg38UCSC Ensembl
Innerchr17:56388927..56417287hg19UCSC Ensembl
Innerchr17:53743926..53772286hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3828361
hg1928361
hg1828361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149777
SamplesHGDP00527
Known GenesBZRAP1, BZRAP1-AS1, MIR142, MIR4736
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575799
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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