A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001750



Internal ID19090967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121430457..121602283hg38UCSC Ensembl
Innerchr1:121172317..121344081hg19UCSC Ensembl
Innerchr1:120873840..121045604hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38171827
hg19171765
hg18171765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv308n100
Supporting Variantsnssv3487258, nssv3493971, nssv3702075, nssv3499997, nssv3492383, nssv3484360, nssv3493632, nssv3702074, nssv3485168, nssv3500797, nssv3487234, nssv3702073
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)nsv1001750
Frequency
Sample Size11257
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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