A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606573



Internal ID16393982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31550984..31551997hg38UCSC Ensembl
Innerchr7:31590598..31591611hg19UCSC Ensembl
Innerchr7:31557123..31558136hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381014
hg191014
hg181014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11267n54
Supporting Variantsnssv1082578, nssv1082574, nssv1082575, nssv1082579, nssv1082580, nssv1082577, nssv1082576
Samples
Known GenesCCDC129
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606573
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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