A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997944



Internal ID18810794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65389160..65442799hg38UCSC Ensembl
Innerchr1:65854843..65908482hg19UCSC Ensembl
Innerchr1:65627431..65681070hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3853640
hg1953640
hg1853640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3701245
Samples
Known GenesDNAJC6, LEPR, LEPROT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997944
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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