A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18062123



Internal ID20629163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61126058..61130838hg38UCSC Ensembl
chr1:61591730..61596510hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg384781
hg194781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330414
Supporting Variants
Samples
Known GenesNFIA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18062123
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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