A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983336



Internal ID18271844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:62658558..62659966hg38UCSC Ensembl
Innerchr12:63052338..63053746hg19UCSC Ensembl
Innerchr12:61338605..61340013hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381409
hg191409
hg181409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1935702, nssv1935700, nssv1935704, nssv1935703, nssv1935699, nssv1935707, nssv1935705, nssv1935698, nssv1935706, nssv1935701
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)nsv983336
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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