A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2161297



Internal ID17785350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:56222069..56224878hg38UCSC Ensembl
Innerchr19:56733438..56736247hg19UCSC Ensembl
Innerchr19:61425250..61428059hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg382810
hg192810
hg182810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978856
Supporting Variants
SamplesHGDP00665
Known GenesZSCAN5A
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)nssv2161297
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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