A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983480



Internal ID18271988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6670944..6674895hg38UCSC Ensembl
Innerchr12:6780110..6784061hg19UCSC Ensembl
Innerchr12:6650371..6654322hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg383952
hg193952
hg183952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2765484
SamplesHGDP00998
Known GenesZNF384
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983480
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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