A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2440231



Internal ID17837430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:27326621..27329596hg38UCSC Ensembl
Innerchr7:27366240..27369215hg19UCSC Ensembl
Innerchr7:27332765..27335740hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg382976
hg192976
hg182976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970808
Supporting Variants
SamplesHGDP00998
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)nssv2440231
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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