A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv77n106



Internal ID20159434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43530729..43531729hg38UCSC Ensembl
chr1:43996400..43997400hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1142759, nsv1121762
SamplesKWS2, KWS1
Known GenesPTPRF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv77n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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