A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009380



Internal ID19098598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104921412..104957888hg38UCSC Ensembl
Innerchr1:105464034..105500510hg19UCSC Ensembl
Innerchr1:105265557..105302033hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3836477
hg1936477
hg1836477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv235n100
Supporting Variantsnssv3487139
Samples
Known GenesMIR548H3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009380
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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