A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1779834



Internal ID17450001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103553664..103557982hg38UCSC Ensembl
Innerchr1:104096286..104100604hg19UCSC Ensembl
Innerchr1:103897809..103902127hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384319
hg194319
hg184319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946105
Supporting Variants
SamplesHGDP00778
Known GenesAMY2B, RNPC3
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)nssv1779834
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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