A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000986



Internal ID18743517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16561560..16636806hg38UCSC Ensembl
Innerchr1:16888055..16963301hg19UCSC Ensembl
Innerchr1:16760642..16835888hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3875247
hg1975247
hg1875247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv56n100
Supporting Variantsnssv3464931
Samples
Known GenesCROCCP2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000986
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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