A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705681



Internal ID15095647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:73042296..73082200hg38UCSC Ensembl
Innerchr3:73091447..73131351hg19UCSC Ensembl
Innerchr3:73174137..73214041hg18UCSC Ensembl
Innerchr3:73174137..73214041hg17UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3839905
hg1939905
hg1839905
hg1739905
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528982
Supporting Variants
Samples
Known GenesEBLN2, PPP4R2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705681
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