A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124279



Internal ID18934463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:146395779..146395834hg38UCSC Ensembl
Outerchr7:146092871..146092926hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975326, nssv3958353
SamplesKWS1, KWS2
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124279
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer