A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112530



Internal ID18906159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:33256099..33257699hg38UCSC Ensembl
Outerchr1:33721700..33723300hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966629
SamplesKWS2
Known GenesZNF362
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112530
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