A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004209



Internal ID19093426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87146758..87861756hg38UCSC Ensembl
Innerchr2:87373881..88161275hg19UCSC Ensembl
Innerchr2:87227392..87942390hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38714999
hg19787395
hg18714999
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3901n100
Supporting Variantsnssv3582333, nssv3582334, nssv3582336, nssv3582335
Samples
Known GenesLINC00152, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2, PLGLB1, PLGLB2, RGPD1, RGPD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004209
Frequency
Sample Size11257
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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