A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1432n106



Internal ID22795260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20864287..20879387hg38UCSC Ensembl
chr17:20767600..20782700hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3815101
hg1915101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1110293, nsv1141302
SamplesKWS2, KWS1
Known GenesCCDC144NL, LOC440416
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1432n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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