A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3768072



Internal ID19309508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177349271..177351372hg38UCSC Ensembl
chr2:178213999..178216100hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg382102
hg192102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077897
Supporting Variants
SamplesKWP1
Known GenesLOC100130691
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3768072
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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