A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7589



Internal ID15536275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:186343313..186387955hg38UCSC Ensembl
Outerchr2:187208040..187252682hg19UCSC Ensembl
Outerchr2:186916285..186960927hg18UCSC Ensembl
Outerchr2:187033546..187078188hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3844643
hg1944643
hg1844643
hg1744643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3071
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)nssv7589
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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