A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575102



Internal ID16362511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44959960..44969613hg38UCSC Ensembl
Innerchr17:43037328..43046981hg19UCSC Ensembl
Innerchr17:40392854..40402507hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg389654
hg199654
hg189654
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv872240
Samples
Known GenesC1QL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575102
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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