A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499



Internal ID15550314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:138472956..138517933hg38UCSC Ensembl
Outerchr6:138794093..138839070hg19UCSC Ensembl
Outerchr6:138835786..138880763hg18UCSC Ensembl
Outerchr6:138835786..138880763hg17UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3844978
hg1944978
hg1844978
hg1744978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8302
SamplesNA12156
Known GenesNHSL1
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)nsv5499
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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