A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113998



Internal ID18906682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:32656070..32656123hg38UCSC Ensembl
Outerchr19:33146976..33147029hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955818, nssv3991282
SamplesKWS1, KWS2
Known GenesANKRD27
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113998
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