A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2780



Internal ID15547343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73767041..73830121hg38UCSC Ensembl
Outerchr2:73994168..74057248hg19UCSC Ensembl
Outerchr2:73847676..73910756hg18UCSC Ensembl
Outerchr2:73905823..73968903hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3863081
hg1963081
hg1863081
hg1763081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5793, nssv1503, nssv6848, nssv2266, nssv9859
SamplesNA18507, NA12156, NA18555, NA19240, NA19129
Known GenesC2orf78, DUSP11, STAMBP
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)nsv2780
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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