A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2441920



Internal ID17808936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:32680037..32761327hg38UCSC Ensembl
Innerchr7:32719649..32800939hg19UCSC Ensembl
Innerchr7:32686174..32767464hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3881291
hg1981291
hg1881291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966773
Supporting Variants
SamplesHGDP00778
Known GenesDPY19L1P1, LINC00997, MIR550A2, MIR550B2, ZNRF2P1
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)nssv2441920
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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