A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000423



Internal ID18742954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39916506..40018324hg38UCSC Ensembl
Innerchr2:40143646..40245464hg19UCSC Ensembl
Innerchr2:39997150..40098968hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38101819
hg19101819
hg18101819
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3791n100
Supporting Variantsnssv3581480
Samples
Known GenesSLC8A1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000423
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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