A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2190n106



Internal ID20161547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240019522..240019947hg38UCSC Ensembl
chr2:240958939..240959364hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1120779, nsv1121233
SamplesKWS2
Known GenesNDUFA10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2190n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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