A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149689



Internal ID15508262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7880977..7952801hg38UCSC Ensembl
Innerchr17:7784295..7856119hg19UCSC Ensembl
Innerchr17:7725020..7796844hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3871825
hg1971825
hg1871825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574333
Supporting Variants
Samples1780862399_A
Known GenesCHD3, CNTROB, KCNAB3, LOC284023, SCARNA21, TRAPPC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149689
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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