A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955202



Internal ID16957389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50544472..50582171hg38UCSC Ensembl
Outerchr22:50982901..51020600hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3837700
hg1937700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000848
SamplesBILGI_BIOE
Known GenesCHKB, CHKB-CPT1B, CPT1B, KLHDC7B, SYCE3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955202
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