A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000388



Internal ID19089605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:78173262..78199601hg38UCSC Ensembl
Innerchr1:78638946..78665285hg19UCSC Ensembl
Innerchr1:78411534..78437873hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3826340
hg1926340
hg1826340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3479178, nssv3478519
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000388
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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