A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6104212



Internal ID22013445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72223465..72223582hg38UCSC Ensembl
chrX:71443315..71443432hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17641192
Samples
Known GenesERCC6L, PIN4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6104212
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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