A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1946



Internal ID5084583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1620784..1684864hg19UCSC Ensembl
Outerchr17:1567534..1631614hg18UCSC Ensembl
Outerchr17:1567534..1631614hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1336, nssv7299, nssv10107
SamplesNA18956, NA12156, NA19240
Known GenesSERPINF1, SERPINF2, SMYD4, WDR81
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
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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