A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522723



Internal ID15450016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40926546..40930026hg38UCSC Ensembl
Innerchr1:41392218..41395698hg19UCSC Ensembl
Innerchr1:41164805..41168285hg18UCSC Ensembl
Innerchr1:41061311..41064791hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383481
hg193481
hg183481
hg173481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698354
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522723
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