A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975644



Internal ID18610851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7843169..7915838hg38UCSC Ensembl
Innerchr12:7995765..8068434hg19UCSC Ensembl
Innerchr12:7887032..7959701hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3872670
hg1972670
hg1872670
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2766575, nssv2761522, nssv2757179, nssv2757652, nssv2762293, nssv2765946, nssv2764223, nssv2765166, nssv2765921
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00927
Known GenesSLC2A14
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975644
Frequency
Sample Size10
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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