A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1083230



Internal ID15589730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44213422..44232814hg38UCSC Ensembl
Innerchr7:44253021..44272413hg19UCSC Ensembl
Innerchr7:44219546..44238938hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3819393
hg1919393
hg1819393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv606751
Supporting Variants
Samples
Known GenesCAMK2B, YKT6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1083230
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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