A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1083292



Internal ID15589792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44226790..44227484hg38UCSC Ensembl
Innerchr7:44266389..44267083hg19UCSC Ensembl
Innerchr7:44232914..44233608hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38695
hg19695
hg18695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv606769
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)nssv1083292
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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