A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077368



Internal ID18978106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112381622..112386423hg38UCSC Ensembl
chr2:113139199..113144000hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg384802
hg194802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771166
SamplesKWP1
Known GenesRGPD5, RGPD8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077368
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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