A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2760893



Internal ID17445352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110117247..110231208hg38UCSC Ensembl
Innerchr2:110874824..110988785hg19UCSC Ensembl
Innerchr2:110232113..110346074hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38113962
hg19113962
hg18113962
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962108
Supporting Variants
SamplesHGDP00665
Known GenesLINC00116, NPHP1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2760893
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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