A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1083417



Internal ID15589917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44226995..44227484hg38UCSC Ensembl
Innerchr7:44266594..44267083hg19UCSC Ensembl
Innerchr7:44233119..44233608hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38490
hg19490
hg18490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv606781
Supporting Variants
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1083417
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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