A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1042292



Internal ID15895478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140851652..140859109hg38UCSC Ensembl
Innerchr5:140231237..140238694hg19UCSC Ensembl
Innerchr5:140211421..140218878hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387458
hg197458
hg187458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599877
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1042292
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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