A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606759



Internal ID16047482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44226585..44227535hg38UCSC Ensembl
Innerchr7:44266184..44267134hg19UCSC Ensembl
Innerchr7:44232709..44233659hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38951
hg19951
hg18951
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11300n54
Supporting Variantsnssv1083245, nssv1083247, nssv1083243, nssv1083242, nssv1083250, nssv1083244, nssv1083246, nssv1083249, nssv1083248
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606759
Frequency
Sample Size17421
Observed Gain7
Observed Loss2
Observed Complex0
Frequencyn/a


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