A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2196842



Internal ID17882132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111765096..111802855hg38UCSC Ensembl
Innerchr2:112522673..112560432hg19UCSC Ensembl
Innerchr2:112239144..112276903hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3837760
hg1937760
hg1837760
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv979098
Supporting Variants
SamplesHGDP01307
Known GenesANAPC1, MIR4771-1, MIR4771-2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2196842
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