A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7629



Internal ID15536235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232156456..232201535hg38UCSC Ensembl
Outerchr2:233021166..233066245hg19UCSC Ensembl
Outerchr2:232729410..232774489hg18UCSC Ensembl
Outerchr2:232846671..232891750hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3845080
hg1945080
hg1845080
hg1745080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209
Supporting Variants
SamplesNA12156
Known GenesDIS3L2
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)nssv7629
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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