A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5637



Internal ID15543800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:12438812..12486597hg38UCSC Ensembl
Outerchr17:12342129..12389914hg19UCSC Ensembl
Outerchr17:12282854..12330639hg18UCSC Ensembl
Outerchr17:12282854..12330639hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3847786
hg1947786
hg1847786
hg1747786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1984
Supporting Variants
SamplesNA19129
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)nssv5637
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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