A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17485520



Internal ID22543431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43782228..43839287hg38UCSC Ensembl
chr2:44009367..44066426hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3857060
hg1957060
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833567
Supporting Variants
Samples
Known GenesABCG5, ABCG8, DYNC2LI1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17485520
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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