A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2444548



Internal ID17781449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39852843..39853681hg38UCSC Ensembl
Innerchr7:39892442..39893280hg19UCSC Ensembl
Innerchr7:39858967..39859805hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38839
hg19839
hg18839
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv981458
Supporting Variants
SamplesHGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2444548
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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