A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8094



Internal ID15189084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:36106013..36150305hg38UCSC Ensembl
Outerchr5:36106115..36150407hg19UCSC Ensembl
Outerchr5:36141872..36186164hg18UCSC Ensembl
Outerchr5:36141872..36186164hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3844293
hg1944293
hg1844293
hg1744293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4795
Supporting Variants
SamplesNA12156
Known GenesLMBRD2, MIR580
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)nssv8094
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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