A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6249



Internal ID15537614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125576360..125603333hg38UCSC Ensembl
Outerchr8:126588604..126615577hg19UCSC Ensembl
Outerchr8:126657786..126684759hg18UCSC Ensembl
Outerchr8:126657786..126684759hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3826974
hg1926974
hg1826974
hg1726974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6377
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)nssv6249
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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