A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2443217



Internal ID17462737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:35869912..35896307hg38UCSC Ensembl
Innerchr7:35909522..35935917hg19UCSC Ensembl
Innerchr7:35876047..35902442hg18UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3826396
hg1926396
hg1826396
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966778
Supporting Variants
SamplesHGDP00778
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)nssv2443217
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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