A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2356747



Internal ID17462878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62389645..62390801hg38UCSC Ensembl
Innerchr5:61685472..61686628hg19UCSC Ensembl
Innerchr5:61721229..61722385hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg381157
hg191157
hg181157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968182
Supporting Variants
SamplesHGDP00778
Known GenesDIMT1
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)nssv2356747
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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