A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983325



Internal ID18618519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52446620..52452276hg38UCSC Ensembl
Innerchr12:52840404..52846060hg19UCSC Ensembl
Innerchr12:51126671..51132327hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg385657
hg195657
hg185657
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1928035, nssv1929624, nssv1929620, nssv1929621, nssv1929623, nssv1928034, nssv1928032, nssv1929622, nssv1928031, nssv1928033
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT6B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983325
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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