A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6207



Internal ID15190971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19584617..19616719hg38UCSC Ensembl
Outerchr8:19442128..19474230hg19UCSC Ensembl
Outerchr8:19486408..19518510hg18UCSC Ensembl
Outerchr8:19486408..19518510hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg387337
hg197337
hg187337
hg177337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6105
Supporting Variants
SamplesNA12156
Known GenesCSGALNACT1
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)nssv6207
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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