A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606762



Internal ID16047485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44226739..44227322hg38UCSC Ensembl
Innerchr7:44266338..44266921hg19UCSC Ensembl
Innerchr7:44232863..44233446hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38584
hg19584
hg18584
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11302n54
Supporting Variantsnssv1083263
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606762
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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