A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2696743



Internal ID17742076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:164260618..164272681hg38UCSC Ensembl
Innerchr4:165181770..165193833hg19UCSC Ensembl
Innerchr4:165401220..165413283hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3812064
hg1912064
hg1812064
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967846
Supporting Variants
SamplesHGDP00456
Known GenesMARCH1
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2696743
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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