A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv930345



Internal ID16224301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:195831819..196134412hg38UCSC Ensembl
Innerchr2:196696543..196999136hg19UCSC Ensembl
Innerchr2:196404788..196707381hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38302594
hg19302594
hg18302594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584151
Supporting Variants
Samples
Known GenesDNAH7, STK17B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv930345
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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