A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10132



Internal ID15542666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:69413467..69445713hg38UCSC Ensembl
Outerchr17:67409608..67441854hg19UCSC Ensembl
Outerchr17:64921203..64953449hg18UCSC Ensembl
Outerchr17:64921203..64953449hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg387229
hg197229
hg187229
hg177229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2130
Supporting Variants
SamplesNA18956
Known GenesMAP2K6
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)nssv10132
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