A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1503



Internal ID15197512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73777282..73807159hg38UCSC Ensembl
Outerchr2:74004409..74034286hg19UCSC Ensembl
Outerchr2:73857917..73887794hg18UCSC Ensembl
Outerchr2:73916064..73945941hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3829878
hg1929878
hg1829878
hg1729878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2780
Supporting Variants
SamplesNA19240
Known GenesC2orf78, DUSP11
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)nssv1503
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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