A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv876104



Internal ID15823374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75249939..75750289hg38UCSC Ensembl
Innerchr17:73246020..73746370hg19UCSC Ensembl
Innerchr17:70757615..71257965hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38500351
hg19500351
hg18500351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576027
Supporting Variants
Samples
Known GenesCASKIN2, GGA3, GRB2, ITGB4, KIAA0195, LLGL2, LOC100287042, MIF4GD, MIR3678, MIR6785, MRPS7, MYO15B, RECQL5, SAP30BP, SLC25A19, SMIM5, SMIM6, TSEN54
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv876104
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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