A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730068



Internal ID21400884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18409166..18875217hg38UCSC Ensembl
chr17:18312480..18778530hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38466052
hg19466051
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16258584, nssv16256200, nssv16256797, nssv16256304, nssv16256328, nssv16257522, nssv16256148, nssv16256610, nssv16256356, nssv16258582, nssv16256116, nssv16257167, nssv16256254, nssv16256278, nssv16257278, nssv16257900, nssv16256805, nssv16256110, nssv16256316, nssv16256994
SamplesNA19239, HG00731, NA19240, HG00733, HG00513
Known GenesCCDC144B, FAM106A, FBXW10, FLJ35934, FOXO3B, KRT16P1, LGALS9C, LOC339240, PRPSAP2, TBC1D28, TRIM16L, TVP23B, USP32P2, ZNF286B
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730068
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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