A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950705



Internal ID16952892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44801029..44813128hg38UCSC Ensembl
Outerchr1:45266701..45278800hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3812100
hg1912100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997142
SamplesBILGI_BIOE
Known GenesBTBD19, PLK3, TCTEX1D4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950705
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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