A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979700



Internal ID19229075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5742221..5742281hg38UCSC Ensembl
Outerchr19:5742232..5742292hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142925
Supporting Variants
SamplesKWS2
Known GenesCATSPERD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979700
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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