A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3701135



Internal ID18999416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104760089..104843628hg38UCSC Ensembl
Innerchr1:105302711..105386250hg19UCSC Ensembl
Innerchr1:105104234..105187773hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3883540
hg1983540
hg1883540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000257
Supporting Variants
Samples
Known GenesMIR548H3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3701135
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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