A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2479146



Internal ID17806819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:136937948..136941611hg38UCSC Ensembl
Innerchr7:136622695..136626358hg19UCSC Ensembl
Innerchr7:136273235..136276898hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg383664
hg193664
hg183664
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981586
Supporting Variants
SamplesHGDP00778
Known GenesCHRM2, LOC349160
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)nssv2479146
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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