A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054518



Internal ID18797049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7279409..7336757hg38UCSC Ensembl
Innerchr12:7432005..7489353hg19UCSC Ensembl
Innerchr12:7323272..7380620hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3857349
hg1957349
hg1857349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1349n100
Supporting Variantsnssv3522208
Samples
Known GenesACSM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054518
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