A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399562



Internal ID22457432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70955327..70955394hg38UCSC Ensembl
chr2:71182457..71182524hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881866
Supporting Variants
Samples
Known GenesATP6V1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399562
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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