A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977352



Internal ID18881516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18697390..18699190hg38UCSC Ensembl
Outerchr19:18808200..18810000hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115542
Supporting Variants
SamplesKWS2
Known GenesCRTC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977352
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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