A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001193



Internal ID19188655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:31985496..31987797hg38UCSC Ensembl
Outerchr20:30573299..30575600hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg382302
hg192302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153277
Supporting Variants
SamplesKWB1
Known GenesXKR7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001193
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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