A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980937



Internal ID19217659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29595363..29595963hg38UCSC Ensembl
Outerchr13:30169500..30170100hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118262
Supporting Variants
SamplesKWS1
Known GenesSLC7A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980937
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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