A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv739



Internal ID15545457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72874189..72911842hg38UCSC Ensembl
Outerchr8:73786424..73824077hg19UCSC Ensembl
Outerchr8:73948978..73986631hg18UCSC Ensembl
Outerchr8:73948978..73986631hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3837654
hg1937654
hg1837654
hg1737654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6255
Supporting Variants
SamplesNA19240
Known GenesKCNB2
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)nssv739
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer