A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2475848



Internal ID17752131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:117548061..117549290hg38UCSC Ensembl
Innerchr7:117188115..117189344hg19UCSC Ensembl
Innerchr7:116975351..116976580hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg381230
hg191230
hg181230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966878
Supporting Variants
SamplesHGDP00521
Known GenesCFTR
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)nssv2475848
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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