A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950522



Internal ID17299396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:100517045..100523544hg38UCSC Ensembl
Outerchr1:100982601..100989100hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997182
SamplesBILGI_BIOE
Known GenesCDC14A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950522
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer