A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599959



Internal ID16040682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150477897..150576147hg38UCSC Ensembl
Innerchr5:149857460..149955709hg19UCSC Ensembl
Innerchr5:149837653..149935902hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3898251
hg1998250
hg1898250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153612
Samples1780862226_A
Known GenesLOC102546298, NDST1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599959
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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