A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001712



Internal ID19090929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102187221..102384824hg38UCSC Ensembl
Innerchr1:102652777..102850380hg19UCSC Ensembl
Innerchr1:102425365..102622968hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38197604
hg19197604
hg18197604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv210n100
Supporting Variantsnssv3481067
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)nsv1001712
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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