A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947032



Internal ID18593882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143294061..143298855hg38UCSC Ensembl
Innerchr1:149011227..149016022hg19UCSC Ensembl
Innerchr1:147277851..147282646hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384795
hg194796
hg184796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv19n82
Supporting Variantsnssv2604656, nssv2604653, nssv2604647, nssv2604648, nssv2604654, nssv2604651, nssv2604649, nssv2604655, nssv2604652, nssv2604650
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947032
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