A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2630912



Internal ID17396113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14725053..14726727hg38UCSC Ensembl
Innerchr16:14818910..14820584hg19UCSC Ensembl
Innerchr16:14726411..14728085hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg381675
hg191675
hg181675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978187
Supporting Variants
SamplesHGDP00456
Known GenesNPIPA2, NPIPA3
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)nssv2630912
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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