A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1336



Internal ID15197695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1748623..1781570hg38UCSC Ensembl
Outerchr17:1651917..1684864hg19UCSC Ensembl
Outerchr17:1598667..1631614hg18UCSC Ensembl
Outerchr17:1598667..1631614hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg388054
hg198054
hg188054
hg178054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1946
Supporting Variants
SamplesNA19240
Known GenesSERPINF1, SERPINF2, SMYD4
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)nssv1336
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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