A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994448



Internal ID19218768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70641483..70642183hg38UCSC Ensembl
Outerchr14:71108200..71108900hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143754
Supporting Variants
SamplesKWS1
Known GenesTTC9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994448
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