A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2434233



Internal ID17405669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2671601..2682592hg38UCSC Ensembl
Innerchr7:2711235..2722226hg19UCSC Ensembl
Innerchr7:2677761..2688752hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3810992
hg1910992
hg1810992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966745
Supporting Variants
SamplesHGDP00521
Known GenesAMZ1
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)nssv2434233
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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