A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983490



Internal ID18618684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81821523..81839890hg38UCSC Ensembl
Innerchr12:82215302..82233669hg19UCSC Ensembl
Innerchr12:80739433..80757800hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3818368
hg1918368
hg1818368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2763095
SamplesHGDP00927
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983490
Frequency
Sample Size10
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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