A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977500



Internal ID18612706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96456451..96457926hg38UCSC Ensembl
Innerchr14:96922788..96924263hg19UCSC Ensembl
Innerchr14:95992541..95994016hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381476
hg191476
hg181476
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1996188, nssv1996185, nssv1996181, nssv1996184, nssv1996187, nssv1996182, nssv1996180, nssv1996179, nssv1996183, nssv1996186
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAK7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977500
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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