A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599885



Internal ID16040608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140852165..140856743hg38UCSC Ensembl
Innerchr5:140231750..140236328hg19UCSC Ensembl
Innerchr5:140211934..140216512hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384579
hg194579
hg184579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10101n54
Supporting Variantsnssv1042345, nssv1042332, nssv1042329, nssv1042343, nssv1042344, nssv1042336, nssv1042327, nssv1042338, nssv1042342, nssv1042340, nssv1042335, nssv1042328, nssv1042330, nssv1042339, nssv1042334, nssv1042331, nssv1042333, nssv1042337, nssv1042346, nssv1042341
Samples
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599885
Frequency
Sample Size17421
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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