A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005525



Internal ID19094742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121030747..121308314hg38UCSC Ensembl
Innerchr3:120749594..121027161hg19UCSC Ensembl
Innerchr3:122232284..122509851hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38277568
hg19277568
hg18277568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3735286
Samples
Known GenesSTXBP5L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005525
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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