A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142756



Internal ID18915333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23930110..24036610hg38UCSC Ensembl
Outerchr1:24256600..24363100hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38106501
hg19106501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv60n106
Supporting Variantsnssv3994256
SamplesKWS1
Known GenesPNRC2, SRSF10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142756
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