A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002440



Internal ID19091657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102192076..102387282hg38UCSC Ensembl
Innerchr1:102657632..102852838hg19UCSC Ensembl
Innerchr1:102430220..102625426hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38195207
hg19195207
hg18195207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv210n100
Supporting Variantsnssv3464835, nssv3480715, nssv3699614, nssv3466744
Samples
Known GenesMIR548AI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002440
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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