A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992344



Internal ID18893380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128478668..128478737hg38UCSC Ensembl
Outerchr7:128118722..128118791hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140843
Supporting Variants
SamplesKWS2
Known GenesMETTL2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992344
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