A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15193199



Internal ID21332088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4119916..4119916hg38UCSC Ensembl
chr12:4229082..4229082hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3930752
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15193199
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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