A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057000



Internal ID18799531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:664913..866713hg38UCSC Ensembl
Innerchr17:568153..769953hg19UCSC Ensembl
Innerchr17:514903..716703hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38201801
hg19201801
hg18201801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719134
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057000
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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