A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975547



Internal ID18610755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31614083..31614678hg38UCSC Ensembl
Innerchr12:31767017..31767612hg19UCSC Ensembl
Innerchr12:31658284..31658879hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38596
hg19596
hg18596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2619072, nssv2619076, nssv2619075, nssv2619077, nssv2619073, nssv2619071, nssv2619070, nssv2619068, nssv2619069, nssv2619074
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDENND5B-AS1
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975547
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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