A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994428



Internal ID19208612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:76617165..76619065hg38UCSC Ensembl
Outerchr13:77191300..77193200hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143736
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994428
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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