A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4012215



Internal ID22073846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:33541751..33550679hg38UCSC Ensembl
Outerchr1:33538376..33552421hg38UCSC Ensembl
Innerchr1:34007351..34016279hg19UCSC Ensembl
Outerchr1:34003976..34018021hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg3814046
hg1914046
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155462
Supporting Variants
Samples
Known GenesCSMD2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4012215
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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