A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975503



Internal ID18610711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:62755104..62756800hg38UCSC Ensembl
Innerchr12:63148884..63150580hg19UCSC Ensembl
Innerchr12:61435151..61436847hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg381697
hg191697
hg181697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1935799, nssv1935798, nssv1935795, nssv1935802, nssv1935796, nssv1935803, nssv1935804, nssv1935800, nssv1935797, nssv1935801
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPPM1H
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975503
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