A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548243



Internal ID16335652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175461719..175769867hg38UCSC Ensembl
Innerchr1:175430855..175739003hg19UCSC Ensembl
Innerchr1:173697478..174005626hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38308149
hg19308149
hg18308149
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv637n54
Supporting Variantsnssv1173914
SamplesHGDP00885
Known GenesTNR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548243
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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