A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3973256



Internal ID19230063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:52997268..52997331hg38UCSC Ensembl
Outerchr20:51613807..51613870hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136551
Supporting Variants
SamplesKWS2
Known GenesTSHZ2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3973256
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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