A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv754



Internal ID15197555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:93638289..93673150hg38UCSC Ensembl
Outerchr8:94650517..94685378hg19UCSC Ensembl
Outerchr8:94719693..94754554hg18UCSC Ensembl
Outerchr8:94719693..94754554hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg386136
hg196136
hg186136
hg176136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6308
Supporting Variants
SamplesNA19240
Known GenesLINC00535
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)nssv754
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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