A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519570



Internal ID15446863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43539609..43606395hg38UCSC Ensembl
Innerchr1:44005280..44072066hg19UCSC Ensembl
Innerchr1:43777867..43844653hg18UCSC Ensembl
Innerchr1:43674373..43741159hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3866787
hg1966787
hg1866787
hg1766787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv673331, nssv656910, nssv705110, nssv674625, nssv662069, nssv660985, nssv657034, nssv675620, nssv703017, nssv682477, nssv686669
Samples
Known GenesPTPRF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519570
Frequency
Sample Size2026
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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