A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606570



Internal ID16393979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31550861..31552257hg38UCSC Ensembl
Innerchr7:31590475..31591871hg19UCSC Ensembl
Innerchr7:31557000..31558396hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381397
hg191397
hg181397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11265n54
Supporting Variantsnssv1082532, nssv1082556, nssv1082562, nssv1082564, nssv1082560, nssv1082566, nssv1082533, nssv1082528, nssv1082535, nssv1082529, nssv1082557, nssv1082545, nssv1082541, nssv1082555, nssv1082561, nssv1082534, nssv1082553, nssv1082551, nssv1082530, nssv1082526, nssv1082552, nssv1082540, nssv1082565, nssv1082537, nssv1082527, nssv1082558, nssv1082546, nssv1082554, nssv1082538, nssv1082544, nssv1082543, nssv1082547, nssv1082550, nssv1082563, nssv1082542, nssv1082531, nssv1082539, nssv1082549, nssv1082536, nssv1082559, nssv1082548
Samples
Known GenesCCDC129
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606570
Frequency
Sample Size17421
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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