A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17451747



Internal ID22509619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149838090..149850243hg38UCSC Ensembl
chr1:149809652..149821810hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3812154
hg1912159
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828344
Supporting Variants
Samples
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H2BC, HIST2H3A, HIST2H3C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17451747
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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