A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868567



Internal ID22643503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72237551..72237721hg38UCSC Ensembl
chrX:71457401..71457571hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17450882
Samples
Known GenesERCC6L, PIN4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868567
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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