A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005397



Internal ID18747928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70133120..70168902hg38UCSC Ensembl
Innerchr1:70598803..70634585hg19UCSC Ensembl
Innerchr1:70371391..70407173hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3835783
hg1935783
hg1835783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3473571
Samples
Known GenesLRRC40
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005397
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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