A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6744



Internal ID15190434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:84349045..84381507hg38UCSC Ensembl
Outerchr1:84814728..84847190hg19UCSC Ensembl
Outerchr1:84587316..84619778hg18UCSC Ensembl
Outerchr1:84526749..84559211hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386976
hg196976
hg186976
hg176976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1744
Supporting Variants
SamplesNA12156
Known GenesSAMD13, UOX
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)nssv6744
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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