A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2456426



Internal ID17836400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:64499036..64563353hg38UCSC Ensembl
Innerchr7:63959414..64023731hg19UCSC Ensembl
Innerchr7:63596849..63661166hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3864318
hg1964318
hg1864318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970855
Supporting Variants
SamplesHGDP00998
Known GenesZNF680
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)nssv2456426
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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