A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9348



Internal ID15540299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:52521709..52580758hg38UCSC Ensembl
Outerchr2:52748847..52807896hg19UCSC Ensembl
Outerchr2:52602351..52661400hg18UCSC Ensembl
Outerchr2:52660498..52719547hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3859050
hg1959050
hg1859050
hg1759050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2728
Supporting Variants
SamplesNA18517
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)nssv9348
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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