A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599924



Internal ID16040647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141919412..141955933hg38UCSC Ensembl
Innerchr5:141298977..141335498hg19UCSC Ensembl
Innerchr5:141279161..141315682hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3836522
hg1936522
hg1836522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042427
Samples
Known GenesKIAA0141, PCDH12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599924
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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