A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2761821



Internal ID17831242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92512844..92517695hg38UCSC Ensembl
Innerchr12:92906620..92911471hg19UCSC Ensembl
Innerchr12:91430751..91435602hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg384852
hg194852
hg184852
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977142
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2761821
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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