A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv78n106



Internal ID22793906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43593597..43594240hg38UCSC Ensembl
chr1:44059268..44059911hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1140221, nsv1140231
SamplesKWS2, KWS1
Known GenesPTPRF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv78n106
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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