A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2360527



Internal ID17462585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69350300..69354270hg38UCSC Ensembl
Innerchr5:68646127..68650097hg19UCSC Ensembl
Innerchr5:68681883..68685853hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383971
hg193971
hg183971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968187
Supporting Variants
SamplesHGDP00778
Known GenesAK6
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)nssv2360527
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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