A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2043304



Internal ID17419339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:13922378..13924189hg38UCSC Ensembl
Innerchr16:14016235..14018046hg19UCSC Ensembl
Innerchr16:13923736..13925547hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381812
hg191812
hg181812
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984261
Supporting Variants
SamplesHGDP00542
Known GenesERCC4
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)nssv2043304
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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