A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012703



Internal ID18755235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59796670..59897484hg38UCSC Ensembl
Innerchr1:60262342..60363156hg19UCSC Ensembl
Innerchr1:60034930..60135744hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38100815
hg19100815
hg18100815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3474607
Samples
Known GenesCYP2J2, HOOK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012703
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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