A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1830682



Internal ID17414521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:4965877..4969892hg38UCSC Ensembl
Innerchr10:5008069..5012084hg19UCSC Ensembl
Innerchr10:4998069..5002084hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg384016
hg194016
hg184016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947726
Supporting Variants
SamplesHGDP00542
Known GenesAKR1C1
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)nssv1830682
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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