A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17516700



Internal ID22574663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72643750..72663407hg38UCSC Ensembl
chrX:71863600..71883257hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3819658
hg1919658
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5973462
Supporting Variants
Samples
Known GenesPHKA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17516700
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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