A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4252



Internal ID15538979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:12441087..12470924hg38UCSC Ensembl
Outerchr17:12344404..12374241hg19UCSC Ensembl
Outerchr17:12285129..12314966hg18UCSC Ensembl
Outerchr17:12285129..12314966hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3829838
hg1929838
hg1829838
hg1729838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1984
Supporting Variants
SamplesNA12878
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)nssv4252
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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