A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148811



Internal ID19196360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134685187..134685310hg38UCSC Ensembl
Outerchr9:137577033..137577156hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997597
SamplesKWB1
Known GenesCOL5A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148811
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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