A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011250



Internal ID19100467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248881748..248930177hg38UCSC Ensembl
Innerchr1:249175947..249224376hg19UCSC Ensembl
Innerchr1:247142570..247190999hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3848430
hg1948430
hg1848430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv645n100
Supporting Variantsnssv3500585, nssv3487599, nssv3495828
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)nsv1011250
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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