A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987256



Internal ID19206149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50494543..50500743hg38UCSC Ensembl
Outerchr19:50997800..51004000hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386201
hg196201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132478
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987256
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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