A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961646



Internal ID22736589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201734484..201734484hg38UCSC Ensembl
chr1:201703612..201703612hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350463
Samples
Known GenesIPO9-AS1, NAV1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961646
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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