A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7544



Internal ID15536320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118284906..118330004hg38UCSC Ensembl
Outerchr2:119042482..119087580hg19UCSC Ensembl
Outerchr2:118758952..118804050hg18UCSC Ensembl
Outerchr2:118758712..118803810hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3845099
hg1945099
hg1845099
hg1745099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2890
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)nssv7544
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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