A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975646



Internal ID18264167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:26524020..26527424hg38UCSC Ensembl
Innerchr12:26676953..26680357hg19UCSC Ensembl
Innerchr12:26568220..26571624hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg383405
hg193405
hg183405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2764151
SamplesHGDP00998
Known GenesITPR2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975646
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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