A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730191



Internal ID21401002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91800410..92053704hg38UCSC Ensembl
chr2:91988436..92241730hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38253295
hg19253295
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16258209, nssv16258194, nssv16257014, nssv16256600, nssv16258657, nssv16256659, nssv16258731, nssv16256939, nssv16258438, nssv16258424, nssv16257267, nssv16258330, nssv16255934, nssv16256056, nssv16256906, nssv16257982, nssv16256836, nssv16256460, nssv16256925, nssv16255972
SamplesNA19238, NA19239, HG00732, NA19240, HG00513
Known GenesACTR3BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730191
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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