A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121958



Internal ID18918736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:80109416..80109716hg38UCSC Ensembl
Outerchr18:77867300..77867600hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968629
SamplesKWS2
Known GenesADNP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121958
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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