A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579724



Internal ID16367133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42870449..43158934hg38UCSC Ensembl
Innerchr19:43374601..43663086hg19UCSC Ensembl
Innerchr19:48066441..48354926hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38288486
hg19288486
hg18288486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6474n54
Supporting Variantsnssv1149928, nssv899747, nssv1149926, nssv1149927
Samples1780854522_A, HGDP00319, 1780862457_A
Known GenesPSG1, PSG11, PSG2, PSG6, PSG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579724
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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