A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4423



Internal ID15192464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73236832..73255176hg38UCSC Ensembl
Outerchr2:73463960..73482304hg19UCSC Ensembl
Outerchr2:73317468..73335812hg18UCSC Ensembl
Outerchr2:73375615..73393959hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3818345
hg1918345
hg1818345
hg1718345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2776
Supporting Variants
SamplesNA12878
Known GenesCCT7, FBXO41
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)nssv4423
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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