A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2170681



Internal ID17805423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40784222..40785267hg38UCSC Ensembl
Innerchr2:41011362..41012407hg19UCSC Ensembl
Innerchr2:40864866..40865911hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg381046
hg191046
hg181046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963225
Supporting Variants
SamplesHGDP00778
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)nssv2170681
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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