A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129331



Internal ID18909339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10609278..12226449hg38UCSC Ensembl
Outerchr18:10609275..12226448hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381617172
hg191617174
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962764
SamplesKWS1
Known GenesANKRD62, C18orf61, CHMP1B, GNAL, IMPA2, MIR7153, MPPE1, PIEZO2, SLC35G4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129331
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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