A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1807683



Internal ID17880756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:173351521..173352204hg38UCSC Ensembl
Innerchr1:173320660..173321343hg19UCSC Ensembl
Innerchr1:171587283..171587966hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38684
hg19684
hg18684
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946508
Supporting Variants
SamplesHGDP01307
Known GenesLOC100506023
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)nssv1807683
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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