A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18121838



Internal ID20688878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:95009298..95009711hg38UCSC Ensembl
chr4:95930449..95930862hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6377118
Supporting Variants
Samples
Known GenesBMPR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18121838
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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