A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980948



Internal ID19224496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99969546..99971746hg38UCSC Ensembl
Outerchr13:100621800..100624000hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg382201
hg192201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118272
Supporting Variants
SamplesKWS1
Known GenesZIC5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980948
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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