A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17498009



Internal ID22555943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61144551..61148050hg38UCSC Ensembl
chr5:60440378..60443877hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5843131
Supporting Variants
Samples
Known GenesNDUFAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17498009
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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