A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5802



Internal ID15543599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88808713..89094263hg38UCSC Ensembl
Outerchr2:89108227..89393757hg19UCSC Ensembl
Outerchr2:88889342..89174872hg18UCSC Ensembl
Outerchr2:88947489..89233019hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38285551
hg19285531
hg18285531
hg17285531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2824
Supporting Variants
SamplesNA19129
Known GenesMIR4436A
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)nssv5802
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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