A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591319



Internal ID16378728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:113947759..113948493hg38UCSC Ensembl
Innerchr3:113666606..113667340hg19UCSC Ensembl
Innerchr3:115149296..115150030hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38735
hg19735
hg18735
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8511n54
Supporting Variantsnssv971557, nssv971559, nssv971558, nssv971561, nssv971560, nssv971556
Samples
Known GenesZDHHC23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591319
Frequency
Sample Size17421
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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