A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575072



Internal ID16362481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44218610..44220833hg38UCSC Ensembl
Innerchr17:42295978..42298201hg19UCSC Ensembl
Innerchr17:39651504..39653727hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382224
hg192224
hg182224
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5603n54
Supporting Variantsnssv872166, nssv872165, nssv872171, nssv872170, nssv872169, nssv872168, nssv872167
Samples
Known GenesUBTF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575072
Frequency
Sample Size17421
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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