A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153553



Internal ID19195232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127979507..127979592hg38UCSC Ensembl
Outerchr2:128737081..128737166hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002207
SamplesKWB1
Known GenesSAP130
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153553
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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