A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115595



Internal ID19265269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:242161006..242170706hg38UCSC Ensembl
Outerchr2:243165300..243175000hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg389701
hg199701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977405
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115595
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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