A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572946



Internal ID16013669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70660097..70706804hg38UCSC Ensembl
Innerchr16:70694000..70740707hg19UCSC Ensembl
Innerchr16:69251501..69298208hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3846708
hg1946708
hg1846708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149187
SamplesHGDP01048
Known GenesIL34, MTSS1L, VAC14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572946
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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