A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517253



Internal ID15444546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:143632535..143654020hg38UCSC Ensembl
Innerchr6:143953672..143975157hg19UCSC Ensembl
Innerchr6:143995365..144016850hg18UCSC Ensembl
Innerchr6:143995365..144016850hg17UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3821486
hg1921486
hg1821486
hg1721486
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672145, nssv704753, nssv654124, nssv703178
Samples
Known GenesPHACTR2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517253
Frequency
Sample Size2026
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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