A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2444697



Internal ID17739785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:37583516..37585264hg38UCSC Ensembl
Innerchr7:37623119..37624867hg19UCSC Ensembl
Innerchr7:37589644..37591392hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381749
hg191749
hg181749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970466
Supporting Variants
SamplesHGDP00456
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)nssv2444697
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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