A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575074



Internal ID16362483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44218610..44221240hg38UCSC Ensembl
Innerchr17:42295978..42298608hg19UCSC Ensembl
Innerchr17:39651504..39654134hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382631
hg192631
hg182631
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5603n54
Supporting Variantsnssv872180, nssv872182, nssv872189, nssv872181, nssv872187, nssv872184, nssv872188, nssv872192, nssv872193, nssv872185, nssv872186, nssv872191, nssv872183, nssv872190, nssv872179
Samples
Known GenesUBTF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575074
Frequency
Sample Size17421
Observed Gain14
Observed Loss1
Observed Complex0
Frequencyn/a


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