A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2464451



Internal ID17776941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74727090..74734343hg38UCSC Ensembl
Innerchr7:74141428..74148685hg19UCSC Ensembl
Innerchr7:73779364..73786621hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387254
hg197258
hg187258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966849
Supporting Variants
SamplesHGDP00665
Known GenesGTF2I
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)nssv2464451
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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