A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1554



Internal ID15545522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:175457624..175494432hg38UCSC Ensembl
Outerchr2:176322352..176359160hg19UCSC Ensembl
Outerchr2:176030598..176067406hg18UCSC Ensembl
Outerchr2:176147859..176184667hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3836809
hg1936809
hg1836809
hg1736809
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3046
Supporting Variants
SamplesNA19240
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)nssv1554
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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