A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14353439



Internal ID22266077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123864681..123864812hg38UCSC Ensembl
chrX:122998531..122998662hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3275444
Supporting Variants
SamplesNA19238
Known GenesXIAP
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)nssv14353439
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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