A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1980



Internal ID15546543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:11313938..11357984hg38UCSC Ensembl
Outerchr17:11217255..11261301hg19UCSC Ensembl
Outerchr17:11157980..11202026hg18UCSC Ensembl
Outerchr17:11157980..11202026hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3844047
hg1944047
hg1844047
hg1744047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10966
SamplesNA15510
Known GenesSHISA6
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)nsv1980
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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