A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945912



Internal ID18592762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44778169..44782844hg38UCSC Ensembl
Innerchr1:45243841..45248516hg19UCSC Ensembl
Innerchr1:45016428..45021103hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg384676
hg194676
hg184676
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1762997, nssv1762992, nssv1762994, nssv1762998, nssv1762991, nssv1762999, nssv1762990, nssv1762996, nssv1762993, nssv1762995
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPS8, SNORD38B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945912
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