A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18064897



Internal ID20631937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88925026..88996017hg38UCSC Ensembl
chr1:89390709..89461700hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3870992
hg1970992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332257
Supporting Variants
Samples
Known GenesCCBL2, RBMXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18064897
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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