A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3275444



Internal ID22377755
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14353438, nssv14353439, nssv14353440
SamplesNA19238, HG00732, NA19240
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)nsv3275444
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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