A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990079



Internal ID19237603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:28179681..28180781hg38UCSC Ensembl
Outerchr7:28219300..28220400hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137575
Supporting Variants
SamplesKWS2
Known GenesJAZF1, JAZF1-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990079
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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