A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594935



Internal ID16382344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:97676842..97844196hg38UCSC Ensembl
Innerchr4:98597993..98765347hg19UCSC Ensembl
Innerchr4:98817016..98984370hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38167355
hg19167355
hg18167355
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9179n54
Supporting Variantsnssv1153487, nssv1153486, nssv1153485, nssv1153489, nssv1153492, nssv1153490, nssv1153493, nssv1153488, nssv1153491
SamplesHGDP01052, HGDP01049, HGDP01048, HGDP01046, HGDP01043, HGDP01058, HGDP01050, HGDP01038, HGDP01045
Known GenesSTPG2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594935
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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