A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5619n54



Internal ID22773514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46040903..46215654hg38UCSC Ensembl
chr17:44118269..44293020hg19UCSC Ensembl
chr17:41474116..41648797hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38174752
hg19174752
hg18174682
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575151, nsv575146
SamplesNINDS_162, NINDS_66
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5619n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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