A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1872441



Internal ID17449533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1595648..1598547hg38UCSC Ensembl
Innerchr11:1616878..1619777hg19UCSC Ensembl
Innerchr11:1573454..1576353hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382900
hg192900
hg182900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv975871
Supporting Variants
SamplesHGDP00778
Known GenesKRTAP5-2, KRTAP5-AS1, MOB2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1872441
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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