A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141561



Internal ID18917825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:50892035..50892107hg38UCSC Ensembl
Outerchr14:51358753..51358825hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993068
SamplesKWS1
Known GenesABHD12B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141561
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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