A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2460544



Internal ID17777641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66811477..66826627hg38UCSC Ensembl
Innerchr7:66276464..66291614hg19UCSC Ensembl
Innerchr7:65913899..65929049hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3815151
hg1915151
hg1815151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981513
Supporting Variants
SamplesHGDP00665
Known GenesGTF2IRD1P1
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)nssv2460544
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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