A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148310



Internal ID19198252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19203070..19704346hg38UCSC Ensembl
Outerchr13:19777210..20278486hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38501277
hg19501277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000348
SamplesKWB1
Known GenesANKRD26P3, LINC00421, MPHOSPH8, PSPC1, TPTE2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148310
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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