A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994693



Internal ID19215024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32562798..32563398hg38UCSC Ensembl
Outerchr20:31150600..31151200hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143981
Supporting Variants
SamplesKWS1
Known GenesC20orf112
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994693
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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