A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606776



Internal ID16047499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44226893..44227484hg38UCSC Ensembl
Innerchr7:44266492..44267083hg19UCSC Ensembl
Innerchr7:44233017..44233608hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38592
hg19592
hg18592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11305n54
Supporting Variantsnssv1083398, nssv1083397
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606776
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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