A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2657996



Internal ID17878005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14200415..14201725hg38UCSC Ensembl
Innerchr18:14200414..14201724hg19UCSC Ensembl
Innerchr18:14190414..14191724hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381311
hg191311
hg181311
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961069
Supporting Variants
SamplesHGDP01307
Known GenesANKRD20A5P
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)nssv2657996
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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