A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1823065



Internal ID17496774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229515909..229517861hg38UCSC Ensembl
Innerchr1:229651656..229653608hg19UCSC Ensembl
Innerchr1:227718279..227720231hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381953
hg191953
hg181953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945361
Supporting Variants
SamplesHGDP01029
Known GenesABCB10
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)nssv1823065
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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