A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975459



Internal ID18263981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21467855..21471047hg38UCSC Ensembl
Innerchr12:21620789..21623981hg19UCSC Ensembl
Innerchr12:21512056..21515248hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg383193
hg193193
hg183193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1921013, nssv1921017, nssv1921015, nssv1921016, nssv1921019, nssv1921011, nssv1921014, nssv1921018, nssv1921012, nssv1921010
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPYROXD1, RECQL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975459
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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