A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999542



Internal ID18812392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158045925..158398342hg38UCSC Ensembl
Innerchr1:158015715..158368132hg19UCSC Ensembl
Innerchr1:156282339..156634756hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38352418
hg19352418
hg18352418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3500337
Samples
Known GenesCD1A, CD1B, CD1C, CD1D, CD1E, KIRREL, LOC646268
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999542
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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