A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989085



Internal ID18899457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:13368736..13369056hg38UCSC Ensembl
Outerchr19:13479550..13479870hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135522
Supporting Variants
SamplesKWS2
Known GenesCACNA1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989085
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