A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974313



Internal ID18262838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21210389..21211709hg38UCSC Ensembl
Innerchr14:21678548..21679868hg19UCSC Ensembl
Innerchr14:20748388..20749708hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381321
hg191321
hg181321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1978531, nssv1978528, nssv1978530, nssv1978529, nssv1978526, nssv1978527, nssv1978524, nssv1978532, nssv1978523, nssv1978525
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHNRNPC
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974313
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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