A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598950



Internal ID16386359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:94330641..94452874hg38UCSC Ensembl
Innerchr5:93666346..93788579hg19UCSC Ensembl
Innerchr5:93692102..93814335hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38122234
hg19122234
hg18122234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1038095
Samples
Known GenesKIAA0825
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598950
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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