A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1534



Internal ID15545544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:125683164..125702334hg38UCSC Ensembl
Outerchr2:126440741..126459911hg19UCSC Ensembl
Outerchr2:126157211..126176381hg18UCSC Ensembl
Outerchr2:126156971..126176141hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3819171
hg1919171
hg1819171
hg1719171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2904
Supporting Variants
SamplesNA19240
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)nssv1534
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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