A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1819892



Internal ID17744246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223643596..223644288hg38UCSC Ensembl
Innerchr1:223831298..223831990hg19UCSC Ensembl
Innerchr1:221897921..221898613hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38693
hg19693
hg18693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945310
Supporting Variants
SamplesHGDP00521
Known GenesCAPN8
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)nssv1819892
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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