A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3504



Internal ID15538232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:12973159..12990633hg38UCSC Ensembl
Outerchr7:13012784..13030258hg19UCSC Ensembl
Outerchr7:12979309..12996783hg18UCSC Ensembl
Outerchr7:12786024..12803498hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3817475
hg1917475
hg1817475
hg1717475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5641
Supporting Variants
SamplesNA12878
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)nssv3504
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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