A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001711



Internal ID19194326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137878123..137879053hg38UCSC Ensembl
Outerchr9:140772575..140773505hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38931
hg19931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148203
Supporting Variants
SamplesKWB1
Known GenesCACNA1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001711
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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