A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17453469



Internal ID22511343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:77932065..77932144hg38UCSC Ensembl
chrX:77187562..77187641hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877221
Supporting Variants
Samples
Known GenesATP7A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17453469
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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