A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7300



Internal ID15189878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3674767..3719479hg38UCSC Ensembl
Outerchr17:3578061..3622773hg19UCSC Ensembl
Outerchr17:3524810..3569522hg18UCSC Ensembl
Outerchr17:3524810..3569522hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3844713
hg1944713
hg1844713
hg1744713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1948
Supporting Variants
SamplesNA12156
Known GenesITGAE, P2RX5, P2RX5-TAX1BP3
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)nssv7300
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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