A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135668



Internal ID19261315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:7502678..7502978hg38UCSC Ensembl
Outerchr7:7542309..7542609hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3487n106
Supporting Variantsnssv3965362, nssv3991421
SamplesKWS2, KWS1
Known GenesCOL28A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135668
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