A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18064378



Internal ID20631418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83877601..83878200hg38UCSC Ensembl
chr1:84343284..84343883hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328261
Supporting Variants
Samples
Known GenesMIR548AP, TTLL7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18064378
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00024


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