A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976618



Internal ID18611824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52361693..52365913hg38UCSC Ensembl
Innerchr12:52755477..52759697hg19UCSC Ensembl
Innerchr12:51041744..51045964hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384221
hg194221
hg184221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1929481, nssv1929480, nssv1929483, nssv1929484, nssv1929479, nssv1929486, nssv1929482, nssv1929487, nssv1929488, nssv1929485
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT85
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976618
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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