A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2211704



Internal ID17386484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:171516544..171518861hg38UCSC Ensembl
Innerchr2:172373054..172375371hg19UCSC Ensembl
Innerchr2:172081300..172083617hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382318
hg192318
hg182318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979148
Supporting Variants
SamplesHGDP00456
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2211704
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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