A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2576231



Internal ID17815619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:8868969..8870395hg38UCSC Ensembl
Innerchr1:143220004..143221431hg19UCSC Ensembl
Innerchr1:142061527..142062954hg18UCSC Ensembl
Cytoband1q12
Allele length
AssemblyAllele length
hg381427
hg191428
hg181428
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945663
Supporting Variants
SamplesHGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2576231
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