A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572747



Internal ID16013470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57692011..57695519hg38UCSC Ensembl
Innerchr16:57725923..57729431hg19UCSC Ensembl
Innerchr16:56283424..56286932hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg383509
hg193509
hg183509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5148n54
Supporting Variantsnssv858096, nssv858095
Samples
Known GenesCCDC135
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572747
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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