A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976582



Internal ID18265102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20552988..20555627hg38UCSC Ensembl
Innerchr12:20705922..20708561hg19UCSC Ensembl
Innerchr12:20597189..20599828hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg382640
hg192640
hg182640
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1919713, nssv1919714, nssv1919721, nssv1919712, nssv1919719, nssv1919716, nssv1919720, nssv1919718, nssv1919717, nssv1919715
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPDE3A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976582
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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