A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136434



Internal ID18902005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166281820..166281879hg38UCSC Ensembl
Outerchr2:167138330..167138389hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972825
SamplesKWS2
Known GenesSCN9A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136434
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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