A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2446933



Internal ID17808925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55660620..55675626hg38UCSC Ensembl
Innerchr7:55728313..55743319hg19UCSC Ensembl
Innerchr7:55695807..55710813hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3815007
hg1915007
hg1815007
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970480
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2446933
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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