A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730048



Internal ID21400864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54199399..54322632hg38UCSC Ensembl
chr7:54267092..54390325hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38123234
hg19123234
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16256684, nssv16258309, nssv16257831, nssv16258540, nssv16256305, nssv16257377, nssv16258347, nssv16258080, nssv16258737, nssv16257936, nssv16258689, nssv16258471, nssv16255989, nssv16257043, nssv16256022, nssv16257574, nssv16257235, nssv16257230, nssv16258864, nssv16257702, nssv16256145, nssv16258135, nssv16256066, nssv16258273, nssv16257873, nssv16258262, nssv16258340, nssv16258231
SamplesNA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesHPVC1
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730048
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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