A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982523



Internal ID18862671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:201924649..201924719hg38UCSC Ensembl
Outerchr1:201893777..201893847hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145394
Supporting Variants
SamplesKWS1
Known GenesLMOD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982523
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