A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17165149



Internal ID21457321
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 StatusS
Merged Variantsnsv5617749
Supporting Variants
SamplesHG02587
Known GenesFRMPD4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17165149
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer