A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204342



Internal ID20771382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70222207..70336039hg38UCSC Ensembl
chr1:70687890..70801722hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38113833
hg19113833
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327085
Supporting Variants
Samples
Known GenesANKRD13C, SRSF11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204342
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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