A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv442n100



Internal ID22786529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158046206..158095732hg38UCSC Ensembl
chr1:158015996..158065522hg19UCSC Ensembl
chr1:156282620..156332146hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3849527
hg1949527
hg1849527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003592, nsv1005196
Samples
Known GenesKIRREL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv442n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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