A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129192



Internal ID19260275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:29930619..29930690hg38UCSC Ensembl
Outerchr18:27510584..27510655hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962623
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129192
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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