A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997150



Internal ID18848169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:80241380..80241502hg38UCSC Ensembl
Outerchr18:77999263..77999385hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145787
Supporting Variants
SamplesKWB1
Known GenesPARD6G
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997150
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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