A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3794



Internal ID15548439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45440976..45474183hg38UCSC Ensembl
Outerchr3:45482468..45515675hg19UCSC Ensembl
Outerchr3:45457472..45490679hg18UCSC Ensembl
Outerchr3:45457472..45490679hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386224
hg196224
hg186224
hg176224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7800
SamplesNA12156
Known GenesLARS2
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)nsv3794
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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