A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3978



Internal ID15201955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123456399..123501453hg38UCSC Ensembl
Outerchr3:123175246..123220300hg19UCSC Ensembl
Outerchr3:124657936..124702990hg18UCSC Ensembl
Outerchr3:124657936..124702990hg17UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3845055
hg1945055
hg1845055
hg1745055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7858
SamplesNA12156
Known GenesPTPLB
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)nsv3978
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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