A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004060



Internal ID19093277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:711922..904528hg38UCSC Ensembl
Innerchr2:711922..900214hg19UCSC Ensembl
Innerchr2:701922..890214hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38192607
hg19188293
hg18188293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3700n100
Supporting Variantsnssv3571270
Samples
Known GenesLINC01115
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004060
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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