A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598684



Internal ID16039407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76790970..76834288hg38UCSC Ensembl
Innerchr5:76086795..76130113hg19UCSC Ensembl
Innerchr5:76122551..76165869hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3843319
hg1943319
hg1843319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9885n54
Supporting Variantsnssv1035144
Samples
Known GenesF2RL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598684
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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