A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955494



Internal ID16957681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44112732..44112963hg38UCSC Ensembl
Outerchr22:44508612..44508843hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3004409
SamplesBILGI_BIOE
Known GenesPARVB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955494
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