A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6813



Internal ID15537050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5053592..5084104hg38UCSC Ensembl
Outerchr2:5193725..5224237hg19UCSC Ensembl
Outerchr2:5111176..5141688hg18UCSC Ensembl
Outerchr2:5144323..5174835hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3830513
hg1930513
hg1830513
hg1730513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2585
Supporting Variants
SamplesNA12156
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)nssv6813
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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