A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947564



Internal ID21367633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171866626..171866626hg38UCSC Ensembl
chr2:172723136..172723136hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15187975
SamplesHG002
Known GenesSLC25A12
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947564
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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