A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2706780



Internal ID17440377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:45818673..45825162hg38UCSC Ensembl
Innerchr7:45858272..45864761hg19UCSC Ensembl
Innerchr7:45824797..45831286hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg386490
hg196490
hg186490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971361
Supporting Variants
SamplesHGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2706780
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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