A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1767267



Internal ID17531602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51250600..51254219hg38UCSC Ensembl
Innerchr1:51716272..51719891hg19UCSC Ensembl
Innerchr1:51488860..51492479hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383620
hg193620
hg183620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945940
Supporting Variants
SamplesHGDP01307
Known GenesRNF11
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)nssv1767267
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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