A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730132



Internal ID21400943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153070523..153079542hg38UCSC Ensembl
chrX:152238906..152247925hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg389020
hg199020
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16256346, nssv16258382, nssv16256901, nssv16256091, nssv16256936, nssv16258284
SamplesNA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPNMA6A, PNMA6C
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730132
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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