A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1824277



Internal ID17868112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229704892..229709027hg38UCSC Ensembl
Innerchr1:229840639..229844774hg19UCSC Ensembl
Innerchr1:227907262..227911397hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg384136
hg194136
hg184136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945364
Supporting Variants
SamplesHGDP01284
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)nssv1824277
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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