A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2443125



Internal ID17506447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:35841798..35866093hg38UCSC Ensembl
Innerchr7:35881408..35905703hg19UCSC Ensembl
Innerchr7:35847933..35872228hg18UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3824296
hg1924296
hg1824296
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966777
Supporting Variants
SamplesHGDP01029
Known GenesSEPT7
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)nssv2443125
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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