A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5087



Internal ID15544175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:51729599..51751885hg38UCSC Ensembl
Outerchr8:52642159..52664445hg19UCSC Ensembl
Outerchr8:52804712..52826998hg18UCSC Ensembl
Outerchr8:52804712..52826998hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg385456
hg195456
hg185456
hg175456
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6191
Supporting Variants
SamplesNA19129
Known GenesPXDNL
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)nssv5087
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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