A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516945



Internal ID15097552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19531331..19935063hg38UCSC Ensembl
Innerchr13:20105471..20509203hg19UCSC Ensembl
Innerchr13:19003471..19407203hg18UCSC Ensembl
Innerchr13:19003471..19407203hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38403733
hg19403733
hg18403733
hg17403733
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662312, nssv653481, nssv670147, nssv685807, nssv662136, nssv690065, nssv696089, nssv705372, nssv683880, nssv672806, nssv675925, nssv654949, nssv673292, nssv662528, nssv703670, nssv691436
Samples
Known GenesMPHOSPH8, PSPC1, TPTE2, ZMYM5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516945
Frequency
Sample Size2026
Observed Gain5
Observed Loss11
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer