A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576130



Internal ID16363539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80184196..80220032hg38UCSC Ensembl
Innerchr17:78157995..78193831hg19UCSC Ensembl
Innerchr17:75772590..75808426hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3835837
hg1935837
hg1835837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv876898
Samples
Known GenesCARD14, SGSH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576130
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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