A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576218



Internal ID16363627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82974920..83004371hg38UCSC Ensembl
Innerchr17:80932796..80962247hg19UCSC Ensembl
Innerchr17:78526085..78555536hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3829452
hg1929452
hg1829452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv877271
Samples
Known GenesB3GNTL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576218
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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