A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002316



Internal ID19091533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:73320545..73350881hg38UCSC Ensembl
Innerchr1:73786228..73816564hg19UCSC Ensembl
Innerchr1:73558816..73589152hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3830337
hg1930337
hg1830337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3474023, nssv3466018
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)nsv1002316
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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