A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138317



Internal ID18920004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:75642227..75642279hg38UCSC Ensembl
Outerchr14:76108570..76108622hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990868
SamplesKWS2
Known GenesFLVCR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138317
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