A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192004



Internal ID21330870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88127094..88127094hg38UCSC Ensembl
chr12:88520871..88520871hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3950605
Supporting Variants
SamplesHG002
Known GenesCEP290
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192004
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer