A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987317



Internal ID19218414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:30185024..30237624hg38UCSC Ensembl
Outerchr20:29419700..29472300hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3852601
hg1952601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132534
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987317
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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