A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006979



Internal ID19096197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220314846..220328176hg38UCSC Ensembl
Innerchr1:220488188..220501518hg19UCSC Ensembl
Innerchr1:218554811..218568141hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3813331
hg1913331
hg1813331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3483292, nssv3491941
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)nsv1006979
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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