A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013224



Internal ID18755755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9380981..9639710hg38UCSC Ensembl
Innerchr1:9441040..9699768hg19UCSC Ensembl
Innerchr1:9363627..9622355hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38258730
hg19258729
hg18258729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3474728
Samples
Known GenesLOC100506022, SLC25A33, TMEM201
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013224
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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