A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15182779



Internal ID21321575
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3937310
Supporting Variants
SamplesHG002
Known GenesAMDHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15182779
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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