A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2477785



Internal ID17844857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:130255821..130263044hg38UCSC Ensembl
Innerchr7:129895661..129902884hg19UCSC Ensembl
Innerchr7:129682897..129690120hg18UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg387224
hg197224
hg187224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966887
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv2477785
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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