A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593343



Internal ID16380752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1870601..1872207hg38UCSC Ensembl
Innerchr4:1872328..1873934hg19UCSC Ensembl
Innerchr4:1842126..1843732hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381607
hg191607
hg181607
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8904n54
Supporting Variantsnssv988452, nssv988454, nssv988451, nssv988450, nssv988453
Samples
Known GenesWHSC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593343
Frequency
Sample Size17421
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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