A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3595



Internal ID15201534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:31744593..31777640hg38UCSC Ensembl
Outerchr22:32140579..32173626hg19UCSC Ensembl
Outerchr22:30470579..30503626hg18UCSC Ensembl
Outerchr22:30465133..30498180hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386391
hg196391
hg186391
hg176391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7740
SamplesNA12156
Known GenesDEPDC5, PRR14L
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)nsv3595
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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