A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1347



Internal ID15544369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:12447584..12466867hg38UCSC Ensembl
Outerchr17:12350901..12370184hg19UCSC Ensembl
Outerchr17:12291626..12310909hg18UCSC Ensembl
Outerchr17:12291626..12310909hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3819284
hg1919284
hg1819284
hg1719284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1984
Supporting Variants
SamplesNA19240
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)nssv1347
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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