A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482729



Internal ID22540635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227320791..227321807hg38UCSC Ensembl
chr2:228185507..228186523hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381017
hg191017
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832763
Supporting Variants
Samples
Known GenesLOC654841
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482729
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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