A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977277



Internal ID19232574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:172800..221000hg38UCSC Ensembl
Outerchr19:172800..221000hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3848201
hg1948201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139691
Supporting Variants
SamplesKWS2
Known GenesLINC01002
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977277
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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