A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576101



Internal ID16016824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78911271..78991681hg38UCSC Ensembl
Innerchr17:76907353..76987763hg19UCSC Ensembl
Innerchr17:74418948..74499358hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3880411
hg1980411
hg1880411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149439
SamplesHGDP01333
Known GenesLGALS3BP, TIMP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576101
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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