A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2662



Internal ID15200539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:30240039..30272268hg38UCSC Ensembl
Outerchr2:30462905..30495134hg19UCSC Ensembl
Outerchr2:30316409..30348638hg18UCSC Ensembl
Outerchr2:30374556..30406785hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3832230
hg1932230
hg1832230
hg1732230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7477
SamplesNA12156
Known GenesLBH
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)nsv2662
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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