A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969208



Internal ID19230129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:726863..728163hg38UCSC Ensembl
Outerchr7:766500..767800hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133642
Supporting Variants
SamplesKWS2
Known GenesHEATR2, PRKAR1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969208
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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