A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150405



Internal ID18852651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:143661930..143666131hg38UCSC Ensembl
Outerchr2:144419499..144423700hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg384202
hg194202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003704
SamplesKWB1
Known GenesARHGAP15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150405
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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