A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145157



Internal ID19282157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:124032946..124033246hg38UCSC Ensembl
Outerchr7:123673000..123673300hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982239
SamplesKWS1
Known GenesTMEM229A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145157
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