A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17167677



Internal ID21430529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:53967174..53967174hg38UCSC Ensembl
chrX:53993607..53993607hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5605410
Supporting Variants
SamplesHG00731
Known GenesPHF8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17167677
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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