A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132998



Internal ID18938723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248431894..248660166hg38UCSC Ensembl
Outerchr1:248595195..248823467hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38228273
hg19228273
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv323n106
Supporting Variantsnssv3987795
SamplesKWS1
Known GenesOR2G6, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132998
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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