A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148801



Internal ID19197481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:150249741..150249836hg38UCSC Ensembl
Outerchr2:151106255..151106350hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997587
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148801
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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