A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3937310



Internal ID21357379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95946567..95949176hg38UCSC Ensembl
chr12:96340345..96342954hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15182779
SamplesHG002
Known GenesAMDHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3937310
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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