A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187176



Internal ID21326005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66431845..66431845hg38UCSC Ensembl
chr2:66658977..66658977hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3954212
Supporting Variants
SamplesHG002
Known GenesMEIS1-AS3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187176
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