A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1976



Internal ID15199853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9785619..9830655hg38UCSC Ensembl
Outerchr17:9688936..9733972hg19UCSC Ensembl
Outerchr17:9629661..9674697hg18UCSC Ensembl
Outerchr17:9629661..9674697hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3845037
hg1945037
hg1845037
hg1745037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7309
SamplesNA12156
Known GenesDHRS7C, GLP2R
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)nsv1976
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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