A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574123



Internal ID16361532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:948992..952193hg38UCSC Ensembl
Innerchr17:852232..855433hg19UCSC Ensembl
Innerchr17:798982..802183hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg383202
hg193202
hg183202
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5397n54
Supporting Variantsnssv866126, nssv866127
Samples
Known GenesNXN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574123
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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