A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv827999



Internal ID6133089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41222065..41227651hg19UCSC Ensembl
Innerchr17:38475591..38481177hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1437820
SamplesNA18949
Known GenesBRCA1
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformAgilent 24M aCGH
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv827999
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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