A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143442



Internal ID18909875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24502610..24503210hg38UCSC Ensembl
Outerchr1:24829100..24829700hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980642
SamplesKWS1
Known GenesRCAN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143442
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