A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945344



Internal ID18245532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227712238..227730075hg38UCSC Ensembl
Innerchr1:227899939..227917776hg19UCSC Ensembl
Innerchr1:225966562..225984399hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3817838
hg1917838
hg1817838
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1822203, nssv1822204, nssv1822200, nssv1822202, nssv1822197, nssv1822199, nssv1822205, nssv1822201, nssv1822206, nssv1822198
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100130093
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945344
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