A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2663246



Internal ID17807800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:76789..79486hg38UCSC Ensembl
Innerchr19:76789..79486hg19UCSC Ensembl
Innerchr19:27789..30486hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382698
hg192698
hg182698
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961259
Supporting Variants
SamplesHGDP00778
Known GenesFAM138A, FAM138F
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2663246
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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