A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2007n106



Internal ID22795835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118136390..118136463hg38UCSC Ensembl
chr2:118893966..118894039hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115997, nsv1119479
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2007n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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