A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2657672



Internal ID17869427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14219721..14221668hg38UCSC Ensembl
Innerchr18:14219720..14221667hg19UCSC Ensembl
Innerchr18:14209720..14211667hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381948
hg191948
hg181948
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960668
Supporting Variants
SamplesHGDP01284
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)nssv2657672
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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