A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2446743



Internal ID17775728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55634976..55642359hg38UCSC Ensembl
Innerchr7:55702669..55710052hg19UCSC Ensembl
Innerchr7:55670163..55677546hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg387384
hg197384
hg187384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970834
Supporting Variants
SamplesHGDP00542
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)nssv2446743
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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