A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000500



Internal ID16946766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212297811..212299287hg38UCSC Ensembl
Outerchr1:212471153..212472629hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381477
hg191477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954209
Supporting Variants
SamplesBILGI_BIOE
Known GenesPPP2R5A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000500
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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