A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5020



Internal ID15542871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:126396382..126415701hg38UCSC Ensembl
Outerchr7:126036436..126055755hg19UCSC Ensembl
Outerchr7:125823672..125842991hg18UCSC Ensembl
Outerchr7:125630387..125649706hg17UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3819320
hg1919320
hg1819320
hg1719320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5937
Supporting Variants
SamplesNA19129
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)nssv5020
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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