A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971340



Internal ID18259874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:100702299..100705260hg38UCSC Ensembl
Innerchr8:101714527..101717488hg19UCSC Ensembl
Innerchr8:101783703..101786664hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382962
hg192962
hg182962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2515576, nssv2515580, nssv2515573, nssv2515575, nssv2515581, nssv2515578, nssv2515574, nssv2515582, nssv2515577, nssv2515579
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMIR7705, PABPC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971340
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