A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1083498



Internal ID15589998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44227100..44227212hg38UCSC Ensembl
Innerchr7:44266699..44266811hg19UCSC Ensembl
Innerchr7:44233224..44233336hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38113
hg19113
hg18113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv606789
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)nssv1083498
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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