A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730161



Internal ID21400972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154336953..154416288hg38UCSC Ensembl
chrX:153565303..153644627hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3879336
hg1979325
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16258724, nssv16258054, nssv16258408, nssv16257061, nssv16257746, nssv16256731, nssv16258800, nssv16257292, nssv16258326, nssv16256023, nssv16257782, nssv16255931, nssv16258631, nssv16255954, nssv16256582, nssv16256421, nssv16258629, nssv16255929, nssv16258786, nssv16258749
SamplesNA19238, NA19239, NA19240, HG00513, HG00514
Known GenesDNASE1L1, EMD, FLNA, RPL10, SNORA70, TAZ
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730161
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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