A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946590



Internal ID18593440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202911665..202913149hg38UCSC Ensembl
Innerchr1:202880793..202882277hg19UCSC Ensembl
Innerchr1:201147416..201148900hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381485
hg191485
hg181485
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1815093, nssv1815095, nssv1815091, nssv1815097, nssv1815088, nssv1815089, nssv1815090, nssv1815096, nssv1815094, nssv1815092
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKLHL12
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946590
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