A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1920599



Internal ID17484047
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 StatusS
Merged Variantsnsv983295
Supporting Variants
SamplesHGDP00998
Known GenesITPR2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1920599
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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