A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467163



Internal ID22525054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2390968..2398287hg38UCSC Ensembl
chr1:2322407..2329726hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg387320
hg197320
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829267
Supporting Variants
Samples
Known GenesMORN1, RER1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17467163
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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