A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597046



Internal ID16384455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8703036..8746994hg38UCSC Ensembl
Innerchr5:8703148..8747106hg19UCSC Ensembl
Innerchr5:8756148..8800106hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3843959
hg1943959
hg1843959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9569n54
Supporting Variantsnssv1024028, nssv1153004, nssv1024025, nssv1024024, nssv1024030, nssv1153003, nssv1024027, nssv1024029, nssv1024031, nssv1024021, nssv1024019, nssv1024023, nssv1024026, nssv1024020, nssv1024022
SamplesHGDP01273, HGDP00515
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597046
Frequency
Sample Size17421
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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