A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007994



Internal ID19097213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121430457..121741169hg38UCSC Ensembl
Innerchr1:121172317..121482967hg19UCSC Ensembl
Innerchr1:120873840..121184490hg18UCSC Ensembl
Cytoband1p11.1
Allele length
AssemblyAllele length
hg38310713
hg19310651
hg18310651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv309n100
Supporting Variantsnssv3500679, nssv3702076, nssv3485689, nssv3486800, nssv3702077, nssv3493066, nssv3495419, nssv3702079, nssv3502090, nssv3491160, nssv3498315, nssv3702078, nssv3487917, nssv3702080, nssv3485980, nssv3498429, nssv3495913, nssv3499104, nssv3488736, nssv3488697
Samples
Known GenesEMBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007994
Frequency
Sample Size11257
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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