A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1760821



Internal ID17530910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39960837..39965664hg38UCSC Ensembl
Innerchr1:40426509..40431336hg19UCSC Ensembl
Innerchr1:40199096..40203923hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384828
hg194828
hg184828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945896
Supporting Variants
SamplesHGDP01307
Known GenesMFSD2A
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)nssv1760821
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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