A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135376



Internal ID18903129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140849315..140859915hg38UCSC Ensembl
Outerchr5:140228900..140239500hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810601
hg1910601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988935
SamplesKWS2
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135376
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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