A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966292



Internal ID18601522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:82275295..82281712hg38UCSC Ensembl
Innerchr4:83196448..83202865hg19UCSC Ensembl
Innerchr4:83415472..83421889hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg386418
hg196418
hg186418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2324917, nssv2324910, nssv2324911, nssv2324916, nssv2324914, nssv2324918, nssv2324919, nssv2324912, nssv2324915, nssv2324913
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966292
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer