A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6124



Internal ID15537739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:49670945..49687805hg38UCSC Ensembl
Outerchr7:49710541..49727401hg19UCSC Ensembl
Outerchr7:49681087..49697947hg18UCSC Ensembl
Outerchr7:49487802..49504662hg17UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3816861
hg1916861
hg1816861
hg1716861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5736
Supporting Variants
SamplesNA12156
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)nssv6124
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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