A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984452



Internal ID18877116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:158756710..158758210hg38UCSC Ensembl
Outerchr1:158726500..158728000hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126221
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984452
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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