A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040047



Internal ID19129266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:55247422..56219986hg38UCSC Ensembl
Innerchr10:57007182..57979747hg19UCSC Ensembl
Innerchr10:56677188..57649753hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38972565
hg19972566
hg18972566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv864n100
Supporting Variantsnssv3511706
Samples
Known GenesMTRNR2L5, RNU6-59P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040047
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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