A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3949521



Internal ID21369591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29562347..29562347hg38UCSC Ensembl
chr22:29958336..29958336hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15189949
SamplesHG002
Known GenesNIPSNAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3949521
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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