A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5635



Internal ID15543802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4860832..4894584hg38UCSC Ensembl
Outerchr17:4764127..4797879hg19UCSC Ensembl
Outerchr17:4710314..4738655hg18UCSC Ensembl
Outerchr17:4710314..4738655hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg387130
hg197130
hg187130
hg177130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1953
Supporting Variants
SamplesNA19129
Known GenesMINK1
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)nssv5635
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer