A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1819798



Internal ID17521230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:222668625..222670424hg38UCSC Ensembl
Innerchr1:222841967..222843766hg19UCSC Ensembl
Innerchr1:220908590..220910389hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381800
hg191800
hg181800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945309
Supporting Variants
SamplesHGDP01284
Known GenesAIDA
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)nssv1819798
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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