A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1758672



Internal ID17778134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:28525867..28527138hg38UCSC Ensembl
Innerchr1:28852379..28853650hg19UCSC Ensembl
Innerchr1:28724966..28726237hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381272
hg191272
hg181272
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945856
Supporting Variants
SamplesHGDP00665
Known GenesRCC1
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)nssv1758672
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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