A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3945218



Internal ID21365287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169850980..169851049hg38UCSC Ensembl
chr1:169820121..169820190hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15177141
SamplesHG002
Known GenesC1orf112
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3945218
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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