A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458290



Internal ID22516171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41049727..41053851hg38UCSC Ensembl
chr1:41515399..41519523hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384125
hg194125
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830317
Supporting Variants
Samples
Known GenesSCMH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458290
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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