A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4276



Internal ID15539003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:53756201..53786281hg38UCSC Ensembl
Outerchr17:51833562..51863642hg19UCSC Ensembl
Outerchr17:49188561..49218641hg18UCSC Ensembl
Outerchr17:49188561..49218641hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3830081
hg1930081
hg1830081
hg1730081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2093
Supporting Variants
SamplesNA12878
Known GenesMIR548AJ2
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)nssv4276
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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