A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595610



Internal ID16036333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143973107..144114635hg38UCSC Ensembl
Innerchr4:144894260..145035788hg19UCSC Ensembl
Innerchr4:145113710..145255238hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38141529
hg19141529
hg18141529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9297n54
Supporting Variantsnssv1152832, nssv1152831, nssv1152830
SamplesHGDP00167, HGDP00031, HGDP00203
Known GenesGYPA, GYPB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595610
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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