A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128801



Internal ID18918405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95300952..95302052hg38UCSC Ensembl
Outerchr2:95966700..95967800hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961469
SamplesKWS1
Known GenesKCNIP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128801
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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