A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2002



Internal ID15546565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:19845251..19861041hg38UCSC Ensembl
Outerchr17:19748564..19764354hg19UCSC Ensembl
Outerchr17:19689156..19704946hg18UCSC Ensembl
Outerchr17:19689156..19704946hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386904
hg196904
hg186904
hg176904
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2962
SamplesNA18555
Known GenesULK2
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)nsv2002
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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