A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112527



Internal ID19286234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31937699..31938599hg38UCSC Ensembl
Outerchr1:32403300..32404200hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv71n106
Supporting Variantsnssv3966626
SamplesKWS2
Known GenesPTP4A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112527
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