A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000624



Internal ID19089841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:208932621..208993210hg38UCSC Ensembl
Innerchr1:209105966..209166555hg19UCSC Ensembl
Innerchr1:207172589..207233178hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3860590
hg1960590
hg1860590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv569n100
Supporting Variantsnssv3500701
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)nsv1000624
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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