A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002554



Internal ID18745086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:63354605..63459148hg38UCSC Ensembl
Innerchr1:63820276..63924819hg19UCSC Ensembl
Innerchr1:63592864..63697407hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38104544
hg19104544
hg18104544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3701242
Samples
Known GenesALG6, ITGB3BP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002554
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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