A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598147



Internal ID16385556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:51981695..52079679hg38UCSC Ensembl
Innerchr5:51277529..51375513hg19UCSC Ensembl
Innerchr5:51313286..51411270hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3897985
hg1997985
hg1897985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9781n54
Supporting Variantsnssv1153929, nssv1030333, nssv1030332
Samples1780854449_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598147
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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