A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv865000



Internal ID15812270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:497719..878167hg38UCSC Ensembl
Innerchr17:400959..781407hg19UCSC Ensembl
Innerchr17:347709..728157hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38380449
hg19380449
hg18380449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574062
Supporting Variants
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv865000
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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