A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3130n106



Internal ID20162487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94773863..94774259hg38UCSC Ensembl
chr5:94109568..94109964hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112100, nsv1131333, nsv1130082
SamplesKWS2, KWS1
Known GenesMCTP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3130n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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