A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001512



Internal ID19090729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51963798..52016313hg38UCSC Ensembl
Innerchr1:52429470..52481985hg19UCSC Ensembl
Innerchr1:52202058..52254573hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3852516
hg1952516
hg1852516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3480841
Samples
Known GenesRAB3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001512
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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