A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461005



Internal ID22213573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24709165..24709165hg38UCSC Ensembl
chrX:24727282..24727282hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532624
Supporting Variants
SamplesHG00733
Known GenesPOLA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14461005
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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