A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606572



Internal ID16393981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31550984..31551943hg38UCSC Ensembl
Innerchr7:31590598..31591557hg19UCSC Ensembl
Innerchr7:31557123..31558082hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38960
hg19960
hg18960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11267n54
Supporting Variantsnssv1082571, nssv1082573, nssv1082572, nssv1082570
Samples
Known GenesCCDC129
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606572
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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