A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526292



Internal ID15106899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51732760..51778037hg38UCSC Ensembl
Innerchr6:51597558..51642835hg19UCSC Ensembl
Innerchr6:51705517..51750794hg18UCSC Ensembl
Innerchr6:51705517..51750794hg17UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3845278
hg1945278
hg1845278
hg1745278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702573
Samples
Known GenesPKHD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526292
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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