A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2447441



Internal ID17820301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48854937..48866412hg38UCSC Ensembl
Innerchr7:48894533..48906008hg19UCSC Ensembl
Innerchr7:48865079..48876554hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3811476
hg1911476
hg1811476
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970475
Supporting Variants
SamplesHGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2447441
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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