A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1957656



Internal ID17812198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30296258..30296887hg38UCSC Ensembl
Innerchr13:30870395..30871024hg19UCSC Ensembl
Innerchr13:29768395..29769024hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38630
hg19630
hg18630
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977224
Supporting Variants
SamplesHGDP00927
Known GenesKATNAL1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1957656
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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