A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951404



Internal ID17300278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:117429379..117431678hg38UCSC Ensembl
Outerchr1:117972001..117974300hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997208
SamplesBILGI_BIOE
Known GenesMAN1A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951404
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