A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606801



Internal ID16047524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44227322..44227535hg38UCSC Ensembl
Innerchr7:44266921..44267134hg19UCSC Ensembl
Innerchr7:44233446..44233659hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38214
hg19214
hg18214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11310n54
Supporting Variantsnssv1083548, nssv1083546, nssv1083547, nssv1083545
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606801
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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