A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15193998



Internal ID21332889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75575622..75575622hg38UCSC Ensembl
chr12:75969402..75969402hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953463
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15193998
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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