A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1821194



Internal ID17397612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227571222..227572857hg38UCSC Ensembl
Innerchr1:227758923..227760558hg19UCSC Ensembl
Innerchr1:225825546..225827181hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381636
hg191636
hg181636
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945340
Supporting Variants
SamplesHGDP00521
Known GenesZNF678
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)nssv1821194
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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