A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952138



Internal ID16954325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228207400..228217099hg38UCSC Ensembl
Outerchr1:228395101..228404800hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389700
hg199700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000309
SamplesBILGI_BIOE
Known GenesC1orf145, OBSCN
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952138
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