A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3942351



Internal ID21362420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74727205..74727205hg38UCSC Ensembl
chr1:75192889..75192889hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383710
hg193710
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15194930
SamplesHG002
Known GenesCRYZ
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3942351
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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