A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522719



Internal ID15450012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33195674..33215118hg38UCSC Ensembl
Innerchr6:33163451..33182895hg19UCSC Ensembl
Innerchr6:33271429..33290873hg18UCSC Ensembl
Innerchr6:33271429..33290873hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3819445
hg1919445
hg1819445
hg1719445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698349
Samples
Known GenesHSD17B8, MIR219-1, RING1, RXRB, SLC39A7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522719
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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