A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443569



Internal ID22501439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23187899..23187950hg38UCSC Ensembl
chr7:23227518..23227569hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5911423
Supporting Variants
Samples
Known GenesNUPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443569
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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