A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829649



Internal ID6155373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:39970955..40104514hg19UCSC Ensembl
Outerchr1:39743542..39877101hg18UCSC Ensembl
Outerchr1:39640048..39773607hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1444673, nssv1444684
Samples
Known GenesBMP8A, HEYL, PABPC4, PPIEL, SNORA55
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv829649
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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