A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2648



Internal ID15200525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26177840..26222776hg38UCSC Ensembl
Outerchr2:26400709..26445644hg19UCSC Ensembl
Outerchr2:26254213..26299148hg18UCSC Ensembl
Outerchr2:26312360..26357295hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3844937
hg1944936
hg1844936
hg1744936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7473
SamplesNA12156
Known GenesGAREML, HADHA
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)nsv2648
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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