A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv366n27



Internal ID20132624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46032477..46215654hg38UCSC Ensembl
chr17:44109843..44293020hg19UCSC Ensembl
chr17:41465690..41648797hg18UCSC Ensembl
chr17:41465690..41648797hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38183178
hg19183178
hg18183108
hg17183108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457747, nsv457749, nsv457752, nsv457750
Samples1780862592_A, NINDS_205, NINDS_66, 1780862594_A
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv366n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer