A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3970055



Internal ID18885150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:10980810..10980877hg38UCSC Ensembl
Outerchr19:11091486..11091553hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1113972
Supporting Variants
SamplesKWS2
Known GenesSMARCA4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3970055
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