A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597856



Internal ID16038579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:38556192..38556816hg38UCSC Ensembl
Innerchr5:38556294..38556918hg19UCSC Ensembl
Innerchr5:38592051..38592675hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38625
hg19625
hg18625
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029107, nssv1029104, nssv1029105, nssv1029109, nssv1029108, nssv1029106, nssv1029103
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)nsv597856
Frequency
Sample Size17421
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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