A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056600



Internal ID18799131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:59844304..59936095hg38UCSC Ensembl
Innerchr20:58419359..58511150hg19UCSC Ensembl
Innerchr20:57852754..57944545hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3891792
hg1991792
hg1891792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4335n100
Supporting Variantsnssv3584254
Samples
Known GenesFAM217B, PHACTR3, SYCP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056600
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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