A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041648



Internal ID18784179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12628315..12673893hg38UCSC Ensembl
Innerchr10:12670314..12715892hg19UCSC Ensembl
Innerchr10:12710320..12755898hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3845579
hg1945579
hg1845579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3513282
Samples
Known GenesCAMK1D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041648
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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