A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481065



Internal ID22538969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56742916..56744715hg38UCSC Ensembl
chr1:57208589..57210388hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830403
Supporting Variants
Samples
Known GenesC1orf168
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481065
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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