A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2442987



Internal ID17809170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:38334742..38368274hg38UCSC Ensembl
Innerchr7:38374343..38407875hg19UCSC Ensembl
Innerchr7:38340868..38374400hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3833533
hg1933533
hg1833533
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966780
Supporting Variants
SamplesHGDP00778
Known GenesTRG-AS1
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)nssv2442987
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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