A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2440132



Internal ID17804396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30287683..30296441hg38UCSC Ensembl
Innerchr7:30327299..30336057hg19UCSC Ensembl
Innerchr7:30293824..30302582hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg388759
hg198759
hg188759
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981445
Supporting Variants
SamplesHGDP00778
Known GenesMIR550A1, MIR550B1, ZNRF2
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)nssv2440132
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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