A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204450



Internal ID22353298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123864681..123864812hg38UCSC Ensembl
chrX:122998531..122998662hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14386908
SamplesNA19240
Known GenesXIAP
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204450
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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