A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114194



Internal ID19271971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2190703..2190756hg38UCSC Ensembl
Outerchr20:2171349..2171402hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986001, nssv3973684
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114194
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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