A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8180



Internal ID15188998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:161264110..161308790hg38UCSC Ensembl
Outerchr5:160691117..160735797hg19UCSC Ensembl
Outerchr5:160623695..160668375hg18UCSC Ensembl
Outerchr5:160623695..160668375hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3844681
hg1944681
hg1844681
hg1744681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5100
Supporting Variants
SamplesNA12156
Known GenesGABRB2
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)nssv8180
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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