A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977138



Internal ID18612344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61805298..61817525hg38UCSC Ensembl
Innerchr12:62199079..62211306hg19UCSC Ensembl
Innerchr12:60485346..60497573hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3812228
hg1912228
hg1812228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2766113
SamplesHGDP00927
Known GenesFAM19A2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977138
Frequency
Sample Size10
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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