A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1484



Internal ID15544218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:23137414..23163461hg38UCSC Ensembl
Outerchr2:23360285..23386332hg19UCSC Ensembl
Outerchr2:23213790..23239837hg18UCSC Ensembl
Outerchr2:23271937..23297984hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3814939
hg1914939
hg1814939
hg1714939
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2638
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)nssv1484
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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