A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945339



Internal ID18592190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227534844..227535841hg38UCSC Ensembl
Innerchr1:227722545..227723542hg19UCSC Ensembl
Innerchr1:225789168..225790165hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38998
hg19998
hg18998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2605664, nssv2605661, nssv2605667, nssv1821929, nssv1821930, nssv1821925, nssv1821928, nssv2605663, nssv2605668, nssv1821932, nssv2604400, nssv2605662, nssv2605666, nssv2605660, nssv1821927, nssv1821923, nssv1821926, nssv1821931, nssv1821924, nssv2605665
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945339
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