A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077897



Internal ID19320565
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 StatusM
Merged Variants
Supporting Variantsnssv3768072
SamplesKWP1
Known GenesLOC100130691
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077897
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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