A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1946



Internal ID15199823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1717490..1781570hg38UCSC Ensembl
Outerchr17:1620784..1684864hg19UCSC Ensembl
Outerchr17:1567534..1631614hg18UCSC Ensembl
Outerchr17:1567534..1631614hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387182
hg197182
hg187182
hg177182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7299, nssv10107, nssv1336
SamplesNA12156, NA18956, NA19240
Known GenesSERPINF1, SERPINF2, SMYD4, WDR81
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)nsv1946
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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