A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135443



Internal ID19286214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102601115..102601431hg38UCSC Ensembl
Outerchr11:102471846..102472162hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv710n106
Supporting Variantsnssv3963544, nssv3989002
SamplesKWS2, KWS1
Known GenesMMP20
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135443
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