A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2459778



Internal ID17786667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:67012548..67067326hg38UCSC Ensembl
Innerchr7:66477535..66532313hg19UCSC Ensembl
Innerchr7:66114970..66169748hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3854779
hg1954779
hg1854779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv981515
Supporting Variants
SamplesHGDP00665
Known GenesTYW1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2459778
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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