A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954815



Internal ID17303688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:196982777..196990276hg38UCSC Ensembl
Outerchr2:197847501..197855000hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg387500
hg197500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003098
SamplesBILGI_BIOE
Known GenesANKRD44
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954815
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