A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976837



Internal ID19242813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42177548..42183148hg38UCSC Ensembl
Outerchr19:42681700..42687300hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385601
hg195601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124784
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976837
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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