A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983295



Internal ID18271803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:26607704..26609103hg38UCSC Ensembl
Innerchr12:26760637..26762036hg19UCSC Ensembl
Innerchr12:26651904..26653303hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381400
hg191400
hg181400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1920602, nssv1920597, nssv1920596, nssv1920598, nssv1920600, nssv1920605, nssv1920604, nssv1920599, nssv1920601, nssv1920603
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesITPR2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983295
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