A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606787



Internal ID16047510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44227049..44227535hg38UCSC Ensembl
Innerchr7:44266648..44267134hg19UCSC Ensembl
Innerchr7:44233173..44233659hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38487
hg19487
hg18487
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11306n54
Supporting Variantsnssv1083492, nssv1083479, nssv1083465, nssv1083462, nssv1083474, nssv1083454, nssv1083468, nssv1083481, nssv1083470, nssv1083484, nssv1083472, nssv1083490, nssv1083460, nssv1083456, nssv1083493, nssv1083486, nssv1083464, nssv1083457, nssv1083485, nssv1083461, nssv1083478, nssv1083487, nssv1083463, nssv1083458, nssv1083471, nssv1083475, nssv1083469, nssv1083452, nssv1083473, nssv1083459, nssv1083453, nssv1083467, nssv1083476, nssv1083455, nssv1083482, nssv1083489, nssv1083488, nssv1083477, nssv1083491, nssv1083466, nssv1083483, nssv1083480
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606787
Frequency
Sample Size17421
Observed Gain36
Observed Loss6
Observed Complex0
Frequencyn/a


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