A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3952



Internal ID15548613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:114415098..114449691hg38UCSC Ensembl
Outerchr3:114133945..114168538hg19UCSC Ensembl
Outerchr3:115616635..115651228hg18UCSC Ensembl
Outerchr3:115616635..115651228hg17UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg385152
hg195152
hg185152
hg175152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3191
SamplesNA12878
Known GenesZBTB20
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)nsv3952
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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