A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1435n106



Internal ID20160792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21397788..21418688hg38UCSC Ensembl
chr17:21301100..21322000hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3820901
hg1920901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1110295, nsv1141304
SamplesKWS2, KWS1
Known GenesKCNJ12, KCNJ18
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1435n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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