A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000786



Internal ID18743317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110080572..110226092hg38UCSC Ensembl
Innerchr2:110838149..110983669hg19UCSC Ensembl
Innerchr2:110195438..110340958hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38145521
hg19145521
hg18145521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4041n100
Supporting Variantsnssv3580165
Samples
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000786
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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