A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2434385



Internal ID17472353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5918814..5987417hg38UCSC Ensembl
Innerchr7:5958445..6027048hg19UCSC Ensembl
Innerchr7:5924971..5993574hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3868604
hg1968604
hg1868604
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970789
Supporting Variants
SamplesHGDP00927
Known GenesCCZ1, PMS2, RSPH10B, RSPH10B2
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)nssv2434385
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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