A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3185006



Internal ID22338457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:148547146..148547223hg38UCSC Ensembl
chrX:147628667..147628744hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413743
SamplesHG00514
Known GenesAFF2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3185006
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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