A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1821925



Internal ID17793787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227534844..227535841hg38UCSC Ensembl
Innerchr1:227722545..227723542hg19UCSC Ensembl
Innerchr1:225789168..225790165hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38998
hg19998
hg18998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945339
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)nssv1821925
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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