A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999544



Internal ID19159081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12772..82820hg38UCSC Ensembl
Innerchr2:12772..82820hg19UCSC Ensembl
Innerchr2:2772..72820hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3870049
hg1970049
hg1870049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3691n100
Supporting Variantsnssv3570485, nssv3570486
Samples
Known GenesFAM110C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999544
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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