A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3823



Internal ID15548471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52969643..53017047hg38UCSC Ensembl
Outerchr3:53003659..53051063hg19UCSC Ensembl
Outerchr3:52978699..53026103hg18UCSC Ensembl
Outerchr3:52978699..53026103hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3847405
hg1947405
hg1847405
hg1747405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10345
SamplesNA18956
Known GenesSFMBT1
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)nsv3823
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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