A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597857



Internal ID16038580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:38556192..38556868hg38UCSC Ensembl
Innerchr5:38556294..38556970hg19UCSC Ensembl
Innerchr5:38592051..38592727hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38677
hg19677
hg18677
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029110
Samples
Known GenesLIFR, LIFR-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597857
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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