A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5848290



Internal ID22623225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72947474..72950387hg38UCSC Ensembl
chr7:72418013..72420926hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382914
hg192914
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17509290, nssv17502743
Samples
Known GenesNSUN5P2, POM121
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5848290
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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