A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2764151



Internal ID17480776
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975646
Supporting Variants
SamplesHGDP00998
Known GenesITPR2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2764151
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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