A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147231



Internal ID19199461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137882747..137891148hg38UCSC Ensembl
Outerchr9:140777199..140785600hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg388402
hg198402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000004
SamplesKWB1
Known GenesCACNA1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147231
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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