A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006608



Internal ID19095825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248874237..248930177hg38UCSC Ensembl
Innerchr1:249168436..249224376hg19UCSC Ensembl
Innerchr1:247135059..247190999hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3855941
hg1955941
hg1855941
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3491057, nssv3490965, nssv3502577, nssv3486729, nssv3495277, nssv3487050
Samples
Known GenesPGBD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006608
Frequency
Sample Size11257
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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