A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9570



Internal ID15193058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:79081890..79120045hg38UCSC Ensembl
Outerchr2:79309016..79347171hg19UCSC Ensembl
Outerchr2:79162524..79200679hg18UCSC Ensembl
Outerchr2:79220671..79258826hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3838156
hg1938156
hg1838156
hg1738156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2796
Supporting Variants
SamplesNA18507
Known GenesREG1B
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)nssv9570
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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