A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5617749



Internal ID21566054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12270815..12270815hg38UCSC Ensembl
chrX:12288934..12288934hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38942
hg19942
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17165149
SamplesHG02587
Known GenesFRMPD4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5617749
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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