A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2435228



Internal ID17743740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6801235..6805121hg38UCSC Ensembl
Innerchr7:6840866..6844752hg19UCSC Ensembl
Innerchr7:6807391..6811277hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg383887
hg193887
hg183887
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966756
Supporting Variants
SamplesHGDP00456
Known GenesCCZ1B
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)nssv2435228
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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