A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17460948



Internal ID22518831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161061364..161065101hg38UCSC Ensembl
chr1:161031154..161034891hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383738
hg193738
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828179
Supporting Variants
Samples
Known GenesARHGAP30
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17460948
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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