A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7347



Internal ID15189831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74637266..74680141hg38UCSC Ensembl
Outerchr17:72633405..72676280hg19UCSC Ensembl
Outerchr17:70145000..70187875hg18UCSC Ensembl
Outerchr17:70145000..70187875hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3842876
hg1942876
hg1842876
hg1742876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2140
Supporting Variants
SamplesNA12156
Known GenesRAB37
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)nssv7347
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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