A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981445



Internal ID18616642
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 StatusM
Merged Variants
Supporting Variantsnssv2440134, nssv2440138, nssv2440132, nssv2440135, nssv2440137, nssv2440136, nssv2440133, nssv2440130, nssv2440131, nssv2440139
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMIR550A1, MIR550B1, ZNRF2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981445
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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