A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2291



Internal ID15540522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:126911956..126951745hg38UCSC Ensembl
Outerchr2:127669532..127709321hg19UCSC Ensembl
Outerchr2:127386002..127425791hg18UCSC Ensembl
Outerchr2:127385762..127425551hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3839790
hg1939790
hg1839790
hg1739790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2907
Supporting Variants
SamplesNA18555
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)nssv2291
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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