A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2473219



Internal ID17876975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:103170367..103170867hg38UCSC Ensembl
Innerchr7:102810814..102811314hg19UCSC Ensembl
Innerchr7:102598050..102598550hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970923
Supporting Variants
SamplesHGDP01307
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)nssv2473219
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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