A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984922



Internal ID18871489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:134574758..134575758hg38UCSC Ensembl
Outerchr3:134293600..134294600hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126656
Supporting Variants
SamplesKWS1
Known GenesCEP63
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984922
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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