A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv82n106



Internal ID20159439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51797003..51797082hg38UCSC Ensembl
chr1:52262675..52262754hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126999, nsv1113116
SamplesKWS2, KWS1
Known GenesNRD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv82n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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