A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3949



Internal ID15548609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:112279665..112325213hg38UCSC Ensembl
Outerchr3:111998512..112044060hg19UCSC Ensembl
Outerchr3:113481202..113526750hg18UCSC Ensembl
Outerchr3:113481202..113526750hg17UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3845549
hg1945549
hg1845549
hg1745549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7022
SamplesNA12156
Known GenesSLC9C1
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)nsv3949
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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