A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594486



Internal ID16381895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65723511..65763257hg38UCSC Ensembl
Innerchr4:66589229..66628975hg19UCSC Ensembl
Innerchr4:66271824..66311570hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3839747
hg1939747
hg1839747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9098n54
Supporting Variantsnssv1001758, nssv1153148, nssv1001756, nssv1001752, nssv1153146, nssv1001755, nssv1001760, nssv1001753, nssv1153147, nssv1001759, nssv1153149, nssv1001751, nssv1001754, nssv1001761, nssv1153151, nssv1153150, nssv1001757
SamplesHGDP00537, HGDP01403, NINDS_240, HGDP01368, HGDP00538, 1780862373_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594486
Frequency
Sample Size17421
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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