A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv851944



Internal ID15799214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1191375..1193194hg38UCSC Ensembl
Innerchr16:1241375..1243194hg19UCSC Ensembl
Innerchr16:1181376..1183195hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381820
hg191820
hg181820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571107
Supporting Variants
Samples
Known GenesCACNA1H
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv851944
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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