A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999282



Internal ID16945548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:51816041..51820640hg38UCSC Ensembl
Outerchr8:52728601..52733200hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951429
Supporting Variants
SamplesBILGI_BIOE
Known GenesPCMTD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999282
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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