A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2448497



Internal ID17804348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55606139..55614233hg38UCSC Ensembl
Innerchr7:55673832..55681926hg19UCSC Ensembl
Innerchr7:55641326..55649420hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg388095
hg198095
hg188095
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970833
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2448497
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer