A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1796217



Internal ID17880312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143456495..143480301hg38UCSC Ensembl
Innerchr1:148872651..148896491hg19UCSC Ensembl
Innerchr1:147139275..147163115hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3823807
hg1923841
hg1823841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946348
Supporting Variants
SamplesHGDP01307
Known GenesLOC101929780
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)nssv1796217
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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