A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2637392



Internal ID17772909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29380312..29384376hg38UCSC Ensembl
Innerchr16:29391633..29395697hg19UCSC Ensembl
Innerchr16:29299134..29303198hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg384065
hg194065
hg184065
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978127
Supporting Variants
SamplesHGDP00542
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)nssv2637392
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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