A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2212064



Internal ID17771685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:174309346..174310835hg38UCSC Ensembl
Innerchr2:175174074..175175563hg19UCSC Ensembl
Innerchr2:174882320..174883809hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381490
hg191490
hg181490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979150
Supporting Variants
SamplesHGDP00542
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)nssv2212064
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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