A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1985n106



Internal ID20161342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105744543..105745543hg38UCSC Ensembl
chr2:106361000..106362000hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1144909, nsv1133481
SamplesKWS1, KWS2
Known GenesNCK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1985n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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