A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8240



Internal ID15188938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:40373795..40418819hg38UCSC Ensembl
Outerchr6:40341534..40386558hg19UCSC Ensembl
Outerchr6:40449512..40494536hg18UCSC Ensembl
Outerchr6:40449512..40494536hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3845025
hg1945025
hg1845025
hg1745025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5273
Supporting Variants
SamplesNA12156
Known GenesLRFN2, TDRG1
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)nssv8240
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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