A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010121



Internal ID18752652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52939995..53134678hg38UCSC Ensembl
Innerchr1:53405667..53600350hg19UCSC Ensembl
Innerchr1:53178255..53372938hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38194684
hg19194684
hg18194684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3469723
Samples
Known GenesPODN, SCP2, SLC1A7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010121
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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