A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003588



Internal ID18746119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169926843..169977295hg38UCSC Ensembl
Innerchr1:169895984..169946436hg19UCSC Ensembl
Innerchr1:168162608..168213060hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3850453
hg1950453
hg1850453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv461n100
Supporting Variantsnssv3486366
Samples
Known GenesKIFAP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003588
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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