A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2418396



Internal ID17496024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:96889442..96891941hg38UCSC Ensembl
Innerchr6:97337318..97339817hg19UCSC Ensembl
Innerchr6:97444039..97446538hg18UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg382500
hg192500
hg182500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981168
Supporting Variants
SamplesHGDP00998
Known GenesNDUFAF4
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)nssv2418396
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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