A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407724



Internal ID22465594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11693815..11693815hg38UCSC Ensembl
chr2:11833941..11833941hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5961213
Supporting Variants
Samples
Known GenesLPIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407724
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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