A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv323n106



Internal ID20159680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248430716..248661542hg38UCSC Ensembl
chr1:248594017..248824843hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38230827
hg19230827
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1116449, nsv1132998
SamplesKWS1, KWS2
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)dgv323n106
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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