A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5626



Internal ID15543813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:310146..311981hg38UCSC Ensembl
Outerchr17:159937..161772hg19UCSC Ensembl
Outerchr17:159937..161772hg18UCSC Ensembl
Outerchr17:159937..161772hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387891
hg197891
hg187891
hg177891
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1938
Supporting Variants
SamplesNA19129
Known GenesRPH3AL
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)nssv5626
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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