A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004148



Internal ID18746679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:166982632..167047074hg38UCSC Ensembl
Innerchr1:166951869..167016311hg19UCSC Ensembl
Innerchr1:165218493..165282935hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3864443
hg1964443
hg1864443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3487690
Samples
Known GenesMAEL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004148
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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