A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1479n106



Internal ID22795307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49151072..49151410hg38UCSC Ensembl
chr17:47228434..47228772hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1135045, nsv1118170, nsv1121167
SamplesKWS2, KWS1
Known GenesB4GALNT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1479n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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