A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17487278



Internal ID22545194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133437244..133440675hg38UCSC Ensembl
chr2:134194815..134198246hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg383432
hg193432
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831010
Supporting Variants
Samples
Known GenesMIR7853, NCKAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17487278
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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