A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467738



Internal ID22525630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41083708..41093022hg38UCSC Ensembl
chr1:41549380..41558694hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg389315
hg199315
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830012
Supporting Variants
Samples
Known GenesSCMH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17467738
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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