A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2469735



Internal ID17772620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:99260214..99261392hg38UCSC Ensembl
Innerchr7:98857837..98859015hg19UCSC Ensembl
Innerchr7:98695773..98696951hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381179
hg191179
hg181179
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981554
Supporting Variants
SamplesHGDP00542
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)nssv2469735
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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