A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516714



Internal ID15097321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43450021..43454653hg38UCSC Ensembl
Innerchr13:44024157..44028789hg19UCSC Ensembl
Innerchr13:42922157..42926789hg18UCSC Ensembl
Innerchr13:42922157..42926789hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg384633
hg194633
hg184633
hg174633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv685435, nssv684434, nssv679613, nssv655963, nssv692728, nssv692646, nssv674335, nssv690562, nssv670342
Samples
Known GenesENOX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516714
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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