A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3980



Internal ID15548644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:124339530..124383773hg38UCSC Ensembl
Outerchr3:124058377..124102620hg19UCSC Ensembl
Outerchr3:125541067..125585310hg18UCSC Ensembl
Outerchr3:125541067..125585310hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3844244
hg1944244
hg1844244
hg1744244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2411
SamplesNA18555
Known GenesKALRN, MIR6083
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)nsv3980
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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