A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981240



Internal ID19209961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57524944..57526944hg38UCSC Ensembl
Outerchr20:56100000..56102000hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118918
Supporting Variants
SamplesKWS1
Known GenesCTCFL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981240
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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