A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3429



Internal ID15548037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58614027..58630753hg38UCSC Ensembl
Outerchr20:57189083..57205809hg19UCSC Ensembl
Outerchr20:56622489..56639215hg18UCSC Ensembl
Outerchr20:56622489..56639215hg17UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3820704
hg1920704
hg1820704
hg1720704
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5887
SamplesNA19129
Known GenesAPCDD1L-AS1
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)nsv3429
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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