A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016665



Internal ID18759200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:50384854..51336827hg38UCSC Ensembl
Innerchr7:50452552..51404524hg19UCSC Ensembl
Innerchr7:50420046..51372018hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38951974
hg19951973
hg18951973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3661264
Samples
Known GenesCOBL, DDC, FIGNL1, GRB10, IKZF1, LOC100129427, MIR4433B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016665
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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