A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962999



Internal ID22737935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67953857..67953857hg38UCSC Ensembl
chr1:68419540..68419540hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384157
Samples
Known GenesGNG12-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962999
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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