A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599208



Internal ID16386617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104311313..104389369hg38UCSC Ensembl
Innerchr5:103647014..103725070hg19UCSC Ensembl
Innerchr5:103674913..103752969hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3878057
hg1978057
hg1878057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9979n54
Supporting Variantsnssv1153981
SamplesNINDS_222
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599208
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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