A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6195



Internal ID15551080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:54235300..54258118hg38UCSC Ensembl
Outerchr8:55147860..55170678hg19UCSC Ensembl
Outerchr8:55310413..55333231hg18UCSC Ensembl
Outerchr8:55310413..55333231hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg387102
hg197102
hg187102
hg177102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8491
SamplesNA12156
Known Genes
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)nsv6195
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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