A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999294



Internal ID19158830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210425385..210439184hg38UCSC Ensembl
Innerchr1:210598729..210612528hg19UCSC Ensembl
Innerchr1:208665352..208679151hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3813800
hg1913800
hg1813800
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3500004, nssv3484355
Samples
Known GenesHHAT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999294
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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