A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849239



Internal ID22032882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:53204244..53204244hg38UCSC Ensembl
chrX:53233426..53233426hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6259482
Supporting Variants
Samples
Known GenesKDM5C
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849239
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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