A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2489784



Internal ID17836218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:155104270..155106501hg38UCSC Ensembl
Innerchr7:154895980..154898211hg19UCSC Ensembl
Innerchr7:154526913..154529144hg18UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg382232
hg192232
hg182232
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970982
Supporting Variants
SamplesHGDP00998
Known Genes
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)nssv2489784
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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