A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2764903



Internal ID17828172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110215189..110222297hg38UCSC Ensembl
Innerchr12:110652994..110660102hg19UCSC Ensembl
Innerchr12:109137377..109144485hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg387109
hg197109
hg187109
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976027
Supporting Variants
SamplesHGDP00998
Known GenesIFT81
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2764903
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer