A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3763367



Internal ID19307457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13110627..13116128hg38UCSC Ensembl
chr1:13178099..13183600hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg385502
hg195502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075775
Supporting Variants
SamplesKWP1
Known GenesHNRNPCP5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3763367
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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