A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18078077



Internal ID20645117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143586883..143587590hg38UCSC Ensembl
chr2:144344452..144345159hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339780
Supporting Variants
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18078077
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00026


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