A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1945



Internal ID15199822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1560608..1589052hg38UCSC Ensembl
Outerchr17:1463902..1492346hg19UCSC Ensembl
Outerchr17:1410652..1439096hg18UCSC Ensembl
Outerchr17:1410652..1439096hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg386138
hg196138
hg186138
hg176138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1335
SamplesNA19240
Known GenesPITPNA, SLC43A2
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)nsv1945
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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