A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730253



Internal ID21401064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38773265..38791552hg38UCSC Ensembl
chr19:39263905..39282192hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3818288
hg1918288
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16257219, nssv16256730, nssv16258497, nssv16257703, nssv16257034, nssv16257626, nssv16258184, nssv16258707, nssv16257234, nssv16258710, nssv16256887, nssv16258378, nssv16258082, nssv16256352, nssv16256275, nssv16257979, nssv16258506, nssv16257383
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLGALS7, LGALS7B
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730253
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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