A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946534



Internal ID18593384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182941421..182942752hg38UCSC Ensembl
Innerchr1:182910556..182911887hg19UCSC Ensembl
Innerchr1:181177179..181178510hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381332
hg191332
hg181332
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1809822, nssv1809828, nssv1809823, nssv1809825, nssv1809820, nssv1809824, nssv1809827, nssv1809821, nssv1809819, nssv1809826
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSHCBP1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946534
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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