A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2476768



Internal ID17787185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:131519399..131521853hg38UCSC Ensembl
Innerchr7:131204158..131206612hg19UCSC Ensembl
Innerchr7:130854698..130857152hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg382455
hg192455
hg182455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981580
Supporting Variants
SamplesHGDP00665
Known GenesPODXL
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)nssv2476768
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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