A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5803



Internal ID15543598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88814737..88938552hg38UCSC Ensembl
Outerchr2:89114251..89238070hg19UCSC Ensembl
Outerchr2:88895366..89019185hg18UCSC Ensembl
Outerchr2:88953513..89077332hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38123816
hg19123820
hg18123820
hg17123820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2824
Supporting Variants
SamplesNA19129
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5803
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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