A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204343



Internal ID20771383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70298267..70376003hg38UCSC Ensembl
chr1:70763950..70841686hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3877737
hg1977737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326374
Supporting Variants
Samples
Known GenesANKRD13C, HHLA3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204343
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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