A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv600



Internal ID15198589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:165293448..165325996hg38UCSC Ensembl
Outerchr6:165706937..165739485hg19UCSC Ensembl
Outerchr6:165626927..165659475hg18UCSC Ensembl
Outerchr6:165677348..165709896hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3832549
hg1932549
hg1832549
hg1732549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5586
Supporting Variants
SamplesNA19240
Known GenesC6orf118
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)nssv600
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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