A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549104



Internal ID16336513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210130974..210164851hg38UCSC Ensembl
Innerchr1:210304319..210338196hg19UCSC Ensembl
Innerchr1:208370942..208404819hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3833878
hg1933878
hg1833878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv797n54
Supporting Variantsnssv1174041
Samples1780862001_A
Known GenesSYT14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549104
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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