A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034



Internal ID15202017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:139316134..139361291hg38UCSC Ensembl
Outerchr3:139034976..139080133hg19UCSC Ensembl
Outerchr3:140517666..140562823hg18UCSC Ensembl
Outerchr3:140517674..140562831hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3845158
hg1945158
hg1845158
hg1745158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7872
SamplesNA12156
Known GenesCOPB2, MRPS22
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)nsv4034
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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