A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368562



Internal ID22594231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203651646..203651944hg38UCSC Ensembl
chr1:203620774..203621072hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884189
Supporting Variants
Samples
Known GenesATP2B4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368562
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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