A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3488548



Internal ID18729503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175467383..175770815hg38UCSC Ensembl
Innerchr1:175436519..175739951hg19UCSC Ensembl
Innerchr1:173703142..174006574hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38303433
hg19303433
hg18303433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004585
Supporting Variants
Samples
Known GenesTNR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3488548
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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