A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4011347



Internal ID22072978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73648672..73701759hg38UCSC Ensembl
Outerchr2:73642023..73706400hg38UCSC Ensembl
Innerchr2:73875799..73928886hg19UCSC Ensembl
Outerchr2:73869150..73933527hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3864378
hg1964378
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155728
Supporting Variants
Samples
Known GenesALMS1P, NAT8, NAT8B
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4011347
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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