A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2393097



Internal ID17776079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:5787409..5788647hg38UCSC Ensembl
Innerchr6:5787642..5788880hg19UCSC Ensembl
Innerchr6:5732641..5733879hg18UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg381239
hg191239
hg181239
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981101
Supporting Variants
SamplesHGDP00542
Known Genes
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)nssv2393097
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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