A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557587



Internal ID22426393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:150382860..150383200hg38UCSC Ensembl
chrX:149551128..149551468hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354196, nssv14354197
SamplesHG00512, HG00513
Known GenesMAMLD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557587
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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