A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2130



Internal ID15546693
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 StatusM
Merged Variants
Supporting Variantsnssv10132
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)nsv2130
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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