A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606767



Internal ID16047490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44226790..44227374hg38UCSC Ensembl
Innerchr7:44266389..44266973hg19UCSC Ensembl
Innerchr7:44232914..44233498hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38585
hg19585
hg18585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11302n54
Supporting Variantsnssv1083271, nssv1083272, nssv1083273
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606767
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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