A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4011202



Internal ID22072833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38728720..38745139hg38UCSC Ensembl
Outerchr2:38727353..38745684hg38UCSC Ensembl
Innerchr2:38955862..38972281hg19UCSC Ensembl
Outerchr2:38954495..38972826hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3818332
hg1918332
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155456
Supporting Variants
Samples
Known GenesGALM, SRSF7
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4011202
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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