A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1868314



Internal ID17796015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:113481699..113484665hg38UCSC Ensembl
Innerchr10:115241458..115244424hg19UCSC Ensembl
Innerchr10:115231448..115234414hg18UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg382967
hg192967
hg182967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948189
Supporting Variants
SamplesHGDP00778
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)nssv1868314
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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