A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575805



Internal ID16016528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59563163..59647682hg38UCSC Ensembl
Innerchr17:57640524..57725043hg19UCSC Ensembl
Innerchr17:54995306..55079825hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3884520
hg1984520
hg1884520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv875649
Samples
Known GenesCLTC, DHX40
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575805
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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