A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597050



Internal ID16384459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8703036..8757578hg38UCSC Ensembl
Innerchr5:8703148..8757690hg19UCSC Ensembl
Innerchr5:8756148..8810690hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3854543
hg1954543
hg1854543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9568n54
Supporting Variantsnssv1024090, nssv1153006, nssv1153007, nssv1024089, nssv1024091, nssv1153005
Samples1780862071_A, NINDS_202, NINDS_96
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597050
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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