A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2483726



Internal ID17503299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143935264..143936264hg38UCSC Ensembl
Innerchr7:143632357..143633357hg19UCSC Ensembl
Innerchr7:143263290..143264290hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966903
Supporting Variants
SamplesHGDP01029
Known GenesOR2F2
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)nssv2483726
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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