A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2061579



Internal ID17803519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:53327948..53374293hg38UCSC Ensembl
Innerchr16:53361860..53408205hg19UCSC Ensembl
Innerchr16:51919361..51965706hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3846346
hg1946346
hg1846346
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974816
Supporting Variants
SamplesHGDP00778
Known GenesLOC643802
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2061579
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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