A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115023



Internal ID18905508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:146371785..146371843hg38UCSC Ensembl
Outerchr7:146068877..146068935hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975325
SamplesKWS2
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115023
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