A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2486183



Internal ID17772152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:145996879..145999151hg38UCSC Ensembl
Innerchr7:145693972..145696244hg19UCSC Ensembl
Innerchr7:145324905..145327177hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382273
hg192273
hg182273
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv966906
Supporting Variants
SamplesHGDP00542
Known Genes
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)nssv2486183
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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