A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955279



Internal ID16957466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:162838391..162840590hg38UCSC Ensembl
Outerchr2:163694901..163697100hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003060
SamplesBILGI_BIOE
Known GenesKCNH7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955279
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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