A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv940698



Internal ID15887968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:44261867..44505244hg38UCSC Ensembl
Innerchr20:42890507..43133885hg19UCSC Ensembl
Innerchr20:42323921..42567299hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38243378
hg19243379
hg18243379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586065
Supporting Variants
Samples
Known GenesFITM2, GDAP1L1, HNF4A, MIR3646, R3HDML, SERINC3, TTPAL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv940698
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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