A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2448651



Internal ID17531491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:51380385..51408671hg38UCSC Ensembl
Innerchr7:51448082..51476368hg19UCSC Ensembl
Innerchr7:51415576..51443862hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3828287
hg1928287
hg1828287
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981469
Supporting Variants
SamplesHGDP01307
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)nssv2448651
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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