A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050994



Internal ID18793525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12540520..12555491hg38UCSC Ensembl
Innerchr10:12582519..12597490hg19UCSC Ensembl
Innerchr10:12622525..12637496hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3814972
hg1914972
hg1814972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv676n100
Supporting Variantsnssv3511250, nssv3517147, nssv3503531, nssv3503252, nssv3512590
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)nsv1050994
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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