A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3701231



Internal ID18652826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53542956..54106304hg38UCSC Ensembl
Innerchr1:54008629..54571977hg19UCSC Ensembl
Innerchr1:53781217..54344565hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38563349
hg19563349
hg18563349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011262
Supporting Variants
Samples
Known GenesDIO1, GLIS1, HSPB11, LDLRAD1, LRRC42, MIR4781, NDC1, TCEANC2, TMEM59, YIPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3701231
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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